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NM_014989.7(RIMS1):c.5071C>T (p.Arg1691Ter) AND Cone-rod dystrophy 7

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 31, 2018
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV000778802.4

Allele description [Variation Report for NM_014989.7(RIMS1):c.5071C>T (p.Arg1691Ter)]

NM_014989.7(RIMS1):c.5071C>T (p.Arg1691Ter)

Gene:
RIMS1:regulating synaptic membrane exocytosis 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q13
Genomic location:
Preferred name:
NM_014989.7(RIMS1):c.5071C>T (p.Arg1691Ter)
HGVS:
  • NC_000006.12:g.72400706C>T
  • NG_016209.1:g.518759C>T
  • NM_001168407.2:c.3031C>T
  • NM_001168408.2:c.2446C>T
  • NM_001168409.2:c.2275C>T
  • NM_001168410.2:c.2473C>T
  • NM_001168411.2:c.652C>T
  • NM_001350414.2:c.2992C>T
  • NM_001350415.2:c.3088C>T
  • NM_001350416.2:c.3037C>T
  • NM_001350417.2:c.2518C>T
  • NM_001350418.2:c.3010C>T
  • NM_001350419.2:c.2290C>T
  • NM_001350420.2:c.3145C>T
  • NM_001350421.2:c.2890C>T
  • NM_001350422.2:c.2515C>T
  • NM_001350423.2:c.2779C>T
  • NM_001350424.2:c.2377C>T
  • NM_001350425.2:c.2989C>T
  • NM_001350426.2:c.2365C>T
  • NM_001350427.2:c.2443C>T
  • NM_001350428.2:c.2449C>T
  • NM_001350429.2:c.2809C>T
  • NM_001350430.2:c.2446C>T
  • NM_001350431.2:c.3127C>T
  • NM_001350432.2:c.2353C>T
  • NM_001350433.2:c.3118C>T
  • NM_001350434.2:c.2593C>T
  • NM_001350435.2:c.2980C>T
  • NM_001350436.2:c.3223C>T
  • NM_001350437.2:c.2974C>T
  • NM_001350438.2:c.2698C>T
  • NM_001350439.2:c.2962C>T
  • NM_001350440.2:c.2362C>T
  • NM_001350441.2:c.2959C>T
  • NM_001350442.2:c.2701C>T
  • NM_001350443.2:c.2932C>T
  • NM_001350444.2:c.2806C>T
  • NM_001350445.2:c.2599C>T
  • NM_001350446.2:c.3217C>T
  • NM_001350447.2:c.2878C>T
  • NM_001350448.2:c.3034C>T
  • NM_001350449.2:c.2425C>T
  • NM_001350450.2:c.2374C>T
  • NM_001350454.2:c.2941C>T
  • NM_001350455.2:c.2293C>T
  • NM_001350456.2:c.3214C>T
  • NM_001350457.2:c.2971C>T
  • NM_001350458.2:c.3040C>T
  • NM_001350459.2:c.2893C>T
  • NM_001350460.2:c.2911C>T
  • NM_001350461.2:c.2761C>T
  • NM_001350462.2:c.3076C>T
  • NM_001350463.2:c.2716C>T
  • NM_001350464.2:c.2719C>T
  • NM_001350465.2:c.2203C>T
  • NM_001350466.2:c.2722C>T
  • NM_001350467.2:c.2638C>T
  • NM_001350468.2:c.2563C>T
  • NM_001350469.2:c.2791C>T
  • NM_001350470.2:c.2479C>T
  • NM_001350471.2:c.2872C>T
  • NM_001350472.2:c.2398C>T
  • NM_001350473.2:c.2401C>T
  • NM_001350474.2:c.2764C>T
  • NM_014989.7:c.5071C>TMANE SELECT
  • NP_001161879.1:p.Arg1011Ter
  • NP_001161880.1:p.Arg816Ter
  • NP_001161881.1:p.Arg759Ter
  • NP_001161882.1:p.Arg825Ter
  • NP_001161883.1:p.Arg218Ter
  • NP_001337343.1:p.Arg998Ter
  • NP_001337344.1:p.Arg1030Ter
  • NP_001337345.1:p.Arg1013Ter
  • NP_001337346.1:p.Arg840Ter
  • NP_001337347.1:p.Arg1004Ter
  • NP_001337348.1:p.Arg764Ter
  • NP_001337349.1:p.Arg1049Ter
  • NP_001337350.1:p.Arg964Ter
  • NP_001337351.1:p.Arg839Ter
  • NP_001337352.1:p.Arg927Ter
  • NP_001337353.1:p.Arg793Ter
  • NP_001337354.1:p.Arg997Ter
  • NP_001337355.1:p.Arg789Ter
  • NP_001337356.1:p.Arg815Ter
  • NP_001337357.1:p.Arg817Ter
  • NP_001337358.1:p.Arg937Ter
  • NP_001337359.1:p.Arg816Ter
  • NP_001337360.1:p.Arg1043Ter
  • NP_001337361.1:p.Arg785Ter
  • NP_001337362.1:p.Arg1040Ter
  • NP_001337363.1:p.Arg865Ter
  • NP_001337364.1:p.Arg994Ter
  • NP_001337365.1:p.Arg1075Ter
  • NP_001337366.1:p.Arg992Ter
  • NP_001337367.1:p.Arg900Ter
  • NP_001337368.1:p.Arg988Ter
  • NP_001337369.1:p.Arg788Ter
  • NP_001337370.1:p.Arg987Ter
  • NP_001337371.1:p.Arg901Ter
  • NP_001337372.1:p.Arg978Ter
  • NP_001337373.1:p.Arg936Ter
  • NP_001337374.1:p.Arg867Ter
  • NP_001337375.1:p.Arg1073Ter
  • NP_001337376.1:p.Arg960Ter
  • NP_001337377.1:p.Arg1012Ter
  • NP_001337378.1:p.Arg809Ter
  • NP_001337379.1:p.Arg792Ter
  • NP_001337383.1:p.Arg981Ter
  • NP_001337384.1:p.Arg765Ter
  • NP_001337385.1:p.Arg1072Ter
  • NP_001337386.1:p.Arg991Ter
  • NP_001337387.1:p.Arg1014Ter
  • NP_001337388.1:p.Arg965Ter
  • NP_001337389.1:p.Arg971Ter
  • NP_001337390.1:p.Arg921Ter
  • NP_001337391.1:p.Arg1026Ter
  • NP_001337392.1:p.Arg906Ter
  • NP_001337393.1:p.Arg907Ter
  • NP_001337394.1:p.Arg735Ter
  • NP_001337395.1:p.Arg908Ter
  • NP_001337396.1:p.Arg880Ter
  • NP_001337397.1:p.Arg855Ter
  • NP_001337398.1:p.Arg931Ter
  • NP_001337399.1:p.Arg827Ter
  • NP_001337400.1:p.Arg958Ter
  • NP_001337401.1:p.Arg800Ter
  • NP_001337402.1:p.Arg801Ter
  • NP_001337403.1:p.Arg922Ter
  • NP_055804.2:p.Arg1691Ter
  • NP_055804.2:p.Arg1691Ter
  • NC_000006.11:g.73110408C>T
  • NM_014989.5:c.5071C>T
...more
Protein change:
R1004*
Links:
dbSNP: rs528476500
NCBI 1000 Genomes Browser:
rs528476500
Molecular consequence:
  • NM_001168407.2:c.3031C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001168408.2:c.2446C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001168409.2:c.2275C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001168410.2:c.2473C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001168411.2:c.652C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350414.2:c.2992C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350415.2:c.3088C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350416.2:c.3037C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350417.2:c.2518C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350418.2:c.3010C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350419.2:c.2290C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350420.2:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350421.2:c.2890C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350422.2:c.2515C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350423.2:c.2779C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350424.2:c.2377C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350425.2:c.2989C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350426.2:c.2365C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350427.2:c.2443C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350428.2:c.2449C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350429.2:c.2809C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350430.2:c.2446C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350431.2:c.3127C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350432.2:c.2353C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350433.2:c.3118C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350434.2:c.2593C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350435.2:c.2980C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350436.2:c.3223C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350437.2:c.2974C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350438.2:c.2698C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350439.2:c.2962C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350440.2:c.2362C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350441.2:c.2959C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350442.2:c.2701C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350443.2:c.2932C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350444.2:c.2806C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350445.2:c.2599C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350446.2:c.3217C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350447.2:c.2878C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350448.2:c.3034C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350449.2:c.2425C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350450.2:c.2374C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350454.2:c.2941C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350455.2:c.2293C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350456.2:c.3214C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350457.2:c.2971C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350458.2:c.3040C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350459.2:c.2893C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350460.2:c.2911C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350461.2:c.2761C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350462.2:c.3076C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350463.2:c.2716C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350464.2:c.2719C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350465.2:c.2203C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350466.2:c.2722C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350467.2:c.2638C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350468.2:c.2563C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350469.2:c.2791C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350470.2:c.2479C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350471.2:c.2872C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350472.2:c.2398C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350473.2:c.2401C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350474.2:c.2764C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_014989.7:c.5071C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Cone-rod dystrophy 7 (CORD7)
Identifiers:
MONDO: MONDO:0011355; MedGen: C1863634; Orphanet: 1872; OMIM: 603649

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000915182Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 09 May 2019)
Uncertain significance
(Oct 31, 2018)
germlineclinical testing

Citation Link

Last Updated: Sep 29, 2024

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