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NM_000350.3(ABCA4):c.3187T>C (p.Ser1063Pro) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000085552.1

Allele description [Variation Report for NM_000350.3(ABCA4):c.3187T>C (p.Ser1063Pro)]

NM_000350.3(ABCA4):c.3187T>C (p.Ser1063Pro)

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.3187T>C (p.Ser1063Pro)
HGVS:
  • NC_000001.11:g.94043339A>G
  • NG_009073.1:g.82811T>C
  • NG_009073.2:g.82809T>C
  • NM_000350.3:c.3187T>CMANE SELECT
  • NM_001425324.1:c.2965T>C
  • NP_000341.2:p.Ser1063Pro
  • NP_001412253.1:p.Ser989Pro
  • NC_000001.10:g.94508895A>G
  • NM_000350.2:c.3187T>C
  • P78363:p.Ser1063Pro
Protein change:
S1063P
Links:
UniProtKB: P78363#VAR_012558; dbSNP: rs61752413
NCBI 1000 Genomes Browser:
rs61752413
Molecular consequence:
  • NM_000350.3:c.3187T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001425324.1:c.2965T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000117689Retina International
no classification provided
not providednot providednot provided

Description

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Retina International, SCV000117689.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2024