NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) AND maculopathy

Clinical significance:Likely pathogenic (Last evaluated: Jun 23, 2019)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001002826.1

Allele description [Variation Report for NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn)]

NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn)

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.4594G>A (p.Asp1532Asn)
HGVS:
  • NC_000001.11:g.94024994C>T
  • NG_009073.1:g.101156G>A
  • NM_000350.3:c.4594G>AMANE SELECT
  • NP_000341.2:p.Asp1532Asn
  • NC_000001.10:g.94490550C>T
  • NM_000350.2:c.4594G>A
  • P78363:p.Asp1532Asn
Protein change:
D1532N
Links:
UniProtKB: P78363#VAR_008457; dbSNP: rs62642574
NCBI 1000 Genomes Browser:
rs62642574
Molecular consequence:
  • NM_000350.3:c.4594G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
maculopathy
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001160843Sharon lab,Hadassah-Hebrew University Medical Centerno assertion criteria providedLikely pathogenic
(Jun 23, 2019)
inheritedresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Sharon lab,Hadassah-Hebrew University Medical Center, SCV001160843.1

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

Last Updated: Sep 7, 2021

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