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NM_001256789.3(CACNA1F):c.946TTC[2] (p.Phe318del) AND Congenital stationary night blindness

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 1, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000505132.8

Allele description [Variation Report for NM_001256789.3(CACNA1F):c.946TTC[2] (p.Phe318del)]

NM_001256789.3(CACNA1F):c.946TTC[2] (p.Phe318del)

Gene:
CACNA1F:calcium voltage-gated channel subunit alpha1 F [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
Xp11.23
Genomic location:
Preferred name:
NM_001256789.3(CACNA1F):c.946TTC[2] (p.Phe318del)
HGVS:
  • NC_000023.11:g.49228312AAG[2]
  • NG_009095.2:g.10048TTC[2]
  • NM_001256789.3:c.946TTC[2]MANE SELECT
  • NM_001256790.3:c.751TTC[2]
  • NM_005183.4:c.946TTC[2]
  • NP_001243718.1:p.Phe318del
  • NP_001243719.1:p.Phe253del
  • NP_005174.2:p.Phe318del
  • NC_000023.10:g.49084773_49084775del
  • NC_000023.10:g.49084774AAG[2]
  • NM_005183.2:c.952_954del
  • NM_005183.2:c.952_954delTTC
  • NM_005183.3:c.952_954del
Protein change:
F253del
Links:
dbSNP: rs1557110499
NCBI 1000 Genomes Browser:
rs1557110499
Molecular consequence:
  • NM_001256789.3:c.946TTC[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001256790.3:c.751TTC[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_005183.4:c.946TTC[2] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Congenital stationary night blindness
Identifiers:
MONDO: MONDO:0016293; MedGen: C0339535; OMIM: PS310500; Human Phenotype Ontology: HP:0007642

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000599049NIHR Bioresource Rare Diseases, University of Cambridge
no assertion criteria provided
Likely pathogenic
(Jan 1, 2015)
unknownresearch

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Europeanunknownyes1not providednot provided1not providedresearch

Citations

PubMed

A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.

Boycott KM, Maybaum TA, Naylor MJ, Weleber RG, Robitaille J, Miyake Y, Bergen AA, Pierpont ME, Pearce WG, Bech-Hansen NT.

Hum Genet. 2001 Feb;108(2):91-7.

PubMed [citation]
PMID:
11281458

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, et al.

Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29.

PubMed [citation]
PMID:
28041643
PMCID:
PMC5223092

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV000599049.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1European1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Jul 15, 2024