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NM_014989.7(RIMS1):c.*545C>A AND Cone-rod dystrophy 7

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 12, 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:
RCV000308923.5

Allele description [Variation Report for NM_014989.7(RIMS1):c.*545C>A]

NM_014989.7(RIMS1):c.*545C>A

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.*545C>A
HGVS:
  • NC_000006.12:g.72401259C>A
  • NG_016209.1:g.519312C>A
  • NM_001168407.2:c.*545C>A
  • NM_001168408.2:c.*545C>A
  • NM_001168409.2:c.*545C>A
  • NM_001168410.2:c.*545C>A
  • NM_001168411.2:c.*545C>A
  • NM_001350414.2:c.*545C>A
  • NM_001350415.2:c.*545C>A
  • NM_001350416.2:c.*545C>A
  • NM_001350417.2:c.*545C>A
  • NM_001350418.2:c.*545C>A
  • NM_001350419.2:c.*545C>A
  • NM_001350420.2:c.*545C>A
  • NM_001350421.2:c.*545C>A
  • NM_001350422.2:c.*545C>A
  • NM_001350423.2:c.*545C>A
  • NM_001350424.2:c.*545C>A
  • NM_001350425.2:c.*545C>A
  • NM_001350426.2:c.*545C>A
  • NM_001350427.2:c.*545C>A
  • NM_001350428.2:c.*545C>A
  • NM_001350429.2:c.*545C>A
  • NM_001350430.2:c.*545C>A
  • NM_001350431.2:c.*545C>A
  • NM_001350432.2:c.*545C>A
  • NM_001350433.2:c.*545C>A
  • NM_001350434.2:c.*545C>A
  • NM_001350435.2:c.*545C>A
  • NM_001350436.2:c.*545C>A
  • NM_001350437.2:c.*545C>A
  • NM_001350438.2:c.*545C>A
  • NM_001350439.2:c.*545C>A
  • NM_001350440.2:c.*545C>A
  • NM_001350441.2:c.*545C>A
  • NM_001350442.2:c.*545C>A
  • NM_001350443.2:c.*545C>A
  • NM_001350444.2:c.*545C>A
  • NM_001350445.2:c.*545C>A
  • NM_001350446.2:c.*545C>A
  • NM_001350447.2:c.*545C>A
  • NM_001350448.2:c.*545C>A
  • NM_001350449.2:c.*545C>A
  • NM_001350450.2:c.*545C>A
  • NM_001350454.2:c.*545C>A
  • NM_001350455.2:c.*545C>A
  • NM_001350456.2:c.*545C>A
  • NM_001350457.2:c.*545C>A
  • NM_001350458.2:c.*545C>A
  • NM_001350459.2:c.*545C>A
  • NM_001350460.2:c.*545C>A
  • NM_001350461.2:c.*545C>A
  • NM_001350462.2:c.*545C>A
  • NM_001350463.2:c.*545C>A
  • NM_001350464.2:c.*545C>A
  • NM_001350465.2:c.*545C>A
  • NM_001350466.2:c.*545C>A
  • NM_001350467.2:c.*545C>A
  • NM_001350468.2:c.*545C>A
  • NM_001350469.2:c.*545C>A
  • NM_001350470.2:c.*545C>A
  • NM_001350471.2:c.*545C>A
  • NM_001350472.2:c.*545C>A
  • NM_001350473.2:c.*545C>A
  • NM_001350474.2:c.*545C>A
  • NM_014989.7:c.*545C>AMANE SELECT
  • NC_000006.11:g.73110961C>A
  • NM_014989.5:c.*545C>A
...more
Links:
dbSNP: rs886061714
NCBI 1000 Genomes Browser:
rs886061714
Molecular consequence:
  • NM_001168407.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001168408.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001168409.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001168410.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001168411.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350414.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350415.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350416.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350417.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350418.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350419.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350420.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350421.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350422.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350423.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350424.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350425.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350426.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350427.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350428.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350429.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350430.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350431.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350432.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350433.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350434.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350435.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350436.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350437.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350438.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350439.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350440.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350441.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350442.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350443.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350444.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350445.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350446.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350447.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350448.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350449.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350450.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350454.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350455.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350456.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350457.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350458.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350459.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350460.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350461.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350462.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350463.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350464.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350465.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350466.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350467.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350468.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350469.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350470.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350471.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350472.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350473.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350474.2:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_014989.7:c.*545C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

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
SCV000464698Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)
Uncertain significance
(Jan 12, 2018)
germlineclinical testing

Citation Link

Last Updated: Jul 8, 2023

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