NM_005183.3(CACNA1F):c.2267T>C (p.Ile756Thr)

Variation ID: Help
11619
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
May 24, 2005
Number of submission(s):
1
Condition(s):
Congenital stationary night blindness, type 2A, severe[MedGen]
See supporting ClinVar records

Allele(s) Help

NM_005183.3(CACNA1F):c.2267T>C (p.Ile756Thr)

Allele ID:
26658
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.23
Genomic location:
  • ChrX: 49222576 (on Assembly GRCh38)
  • ChrX: 49079035 (on Assembly GRCh37)
Protein change:
I745T, I691T, I756T
HGVS:
  • NG_009095.2:g.15791T>C
  • NM_001256789.2:c.2234T>C
  • NM_001256790.2:c.2072T>C
  • NM_005183.3:c.2267T>C
  • NP_001243718.1:p.Ile745Thr
  • NP_001243719.1:p.Ile691Thr
  • NP_005174.2:p.Ile756Thr
  • NC_000023.11:g.49222576A>G (GRCh38)
  • NC_000023.10:g.49079035A>G (GRCh37)
  • NM_001256789.1:c.2234T>C
  • NM_001256790.1:c.2072T>C
  • NM_005183.2:c.2267T>C
  • O60840:p.Ile756Thr
Links:
NCBI 1000 Genomes Browser:
rs122456136
Molecular consequence:
NM_005183.3:c.2267T>C: missense variant [Sequence Ontology SO:0001583]

1 Affected gene

Variant frequency in dbGaP Help

NM_005183.3(CACNA1F):c.2267T>C (p.Ile756Thr)

GRCh37 ChrX:49079035
Called variantsPotential variants
Sample countno data0 of 40949

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(May 24, 2005)
no assertion criteria providedliterature only
  • Congenital stationary night blindness, type 2A, severe[MedGen]
germlineOMIMSCV000032619.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: May 8, 2017