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NM_014989.7(RIMS1):c.2545-4T>C AND Cone-rod dystrophy 7

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 19, 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:
RCV001158744.4

Allele description [Variation Report for NM_014989.7(RIMS1):c.2545-4T>C]

NM_014989.7(RIMS1):c.2545-4T>C

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.2545-4T>C
HGVS:
  • NC_000006.12:g.72251211T>C
  • NG_016209.1:g.369265T>C
  • NM_001168407.2:c.967-4T>C
  • NM_001168408.2:c.967-4T>C
  • NM_001168409.2:c.724-4T>C
  • NM_001168410.2:c.922-4T>C
  • NM_001350414.2:c.967-4T>C
  • NM_001350415.2:c.967-4T>C
  • NM_001350416.2:c.967-4T>C
  • NM_001350417.2:c.967-4T>C
  • NM_001350418.2:c.967-4T>C
  • NM_001350419.2:c.967-4T>C
  • NM_001350420.2:c.967-4T>C
  • NM_001350421.2:c.898-4T>C
  • NM_001350422.2:c.967-4T>C
  • NM_001350423.2:c.967-4T>C
  • NM_001350424.2:c.898-4T>C
  • NM_001350425.2:c.967-4T>C
  • NM_001350426.2:c.967-4T>C
  • NM_001350427.2:c.967-4T>C
  • NM_001350428.2:c.898-4T>C
  • NM_001350429.2:c.967-4T>C
  • NM_001350430.2:c.898-4T>C
  • NM_001350431.2:c.967-4T>C
  • NM_001350432.2:c.967-4T>C
  • NM_001350433.2:c.967-4T>C
  • NM_001350434.2:c.967-4T>C
  • NM_001350435.2:c.967-4T>C
  • NM_001350436.2:c.967-4T>C
  • NM_001350437.2:c.898-4T>C
  • NM_001350438.2:c.967-4T>C
  • NM_001350439.2:c.967-4T>C
  • NM_001350440.2:c.967-4T>C
  • NM_001350441.2:c.967-4T>C
  • NM_001350442.2:c.967-4T>C
  • NM_001350443.2:c.967-4T>C
  • NM_001350444.2:c.967-4T>C
  • NM_001350445.2:c.967-4T>C
  • NM_001350446.2:c.967-4T>C
  • NM_001350447.2:c.967-4T>C
  • NM_001350448.2:c.967-4T>C
  • NM_001350449.2:c.967-4T>C
  • NM_001350450.2:c.898-4T>C
  • NM_001350452.2:c.967-4T>C
  • NM_001350454.2:c.967-4T>C
  • NM_001350455.2:c.967-4T>C
  • NM_001350456.2:c.967-4T>C
  • NM_001350457.2:c.967-4T>C
  • NM_001350458.2:c.967-4T>C
  • NM_001350459.2:c.898-4T>C
  • NM_001350460.2:c.967-4T>C
  • NM_001350461.2:c.724-4T>C
  • NM_001350462.2:c.898-4T>C
  • NM_001350463.2:c.724-4T>C
  • NM_001350464.2:c.724-4T>C
  • NM_001350465.2:c.724-4T>C
  • NM_001350466.2:c.724-4T>C
  • NM_001350467.2:c.724-4T>C
  • NM_001350468.2:c.724-4T>C
  • NM_001350469.2:c.724-4T>C
  • NM_001350470.2:c.922-4T>C
  • NM_001350471.2:c.898-4T>C
  • NM_001350472.2:c.922-4T>C
  • NM_001350473.2:c.922-4T>C
  • NM_001350474.2:c.922-4T>C
  • NM_014989.7:c.2545-4T>CMANE SELECT
  • NC_000006.11:g.72960914T>C
  • NM_014989.5:c.2545-4T>C
...more
Links:
dbSNP: rs747921988
NCBI 1000 Genomes Browser:
rs747921988
Molecular consequence:
  • NM_001168407.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001168408.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001168409.2:c.724-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001168410.2:c.922-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350414.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350415.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350416.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350417.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350418.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350419.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350420.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350421.2:c.898-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350422.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350423.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350424.2:c.898-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350425.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350426.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350427.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350428.2:c.898-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350429.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350430.2:c.898-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350431.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350432.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350433.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350434.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350435.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350436.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350437.2:c.898-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350438.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350439.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350440.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350441.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350442.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350443.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350444.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350445.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350446.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350447.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350448.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350449.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350450.2:c.898-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350452.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350454.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350455.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350456.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350457.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350458.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350459.2:c.898-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350460.2:c.967-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350461.2:c.724-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350462.2:c.898-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350463.2:c.724-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350464.2:c.724-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350465.2:c.724-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350466.2:c.724-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350467.2:c.724-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350468.2:c.724-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350469.2:c.724-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350470.2:c.922-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350471.2:c.898-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350472.2:c.922-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350473.2:c.922-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350474.2:c.922-4T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_014989.7:c.2545-4T>C - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001320398Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)
Uncertain significance
(Jan 19, 2018)
germlineclinical testing

Citation Link

Last Updated: Oct 8, 2024

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