CACNA1F, 1-BP INS, 991C

Variation ID: Help
11616
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jul 1, 1998
Number of submission(s):
1
Condition(s):
Congenital stationary night blindness, type 2A[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

CACNA1F, 1-BP INS, 991C

Allele ID:
26655
Variant type:
Insertion
Cytogenetic location:
Xp11.23
Other names:
  • 1-BP INS, 991C
Links:
OMIM: 300110.0003

1 Affected gene

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Jul 1, 1998)
no assertion criteria providedliterature only
  • Congenital stationary night blindness, type 2A[MedGen | OMIM]
germlineOMIMSCV000032616.3
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 6, 2017