NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) AND Retinal dystrophy

Clinical significance:Pathogenic (Last evaluated: Jul 20, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001073630.1

Allele description [Variation Report for NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)]

NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)

Gene:
ABCA4:ATP binding cassette subfamily A member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p22.1
Genomic location:
Preferred name:
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)
HGVS:
  • NC_000001.11:g.94029522A>G
  • NG_009073.1:g.96628T>C
  • NM_000350.3:c.4462T>CMANE SELECT
  • NP_000341.2:p.Cys1488Arg
  • NC_000001.10:g.94495078A>G
  • NM_000350.2:c.4462T>C
  • P78363:p.Cys1488Arg
Protein change:
C1488R
Links:
UniProtKB: P78363#VAR_008453; dbSNP: rs61750146
NCBI 1000 Genomes Browser:
rs61750146
Molecular consequence:
  • NM_000350.3:c.4462T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Retinal dystrophy
Identifiers:
MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001239181Blueprint Geneticscriteria provided, single submitter
Pathogenic
(Jul 20, 2019)
germlineclinical testing

Citation Link

Description

My Retina Tracker patient

SCV001239181

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Blueprint Genetics, SCV001239181.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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