NM_001089.3(ABCA3):c.4822G>T (p.Gly1608Cys) AND not provided

Clinical significance:not provided

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

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000074420.1

Allele description [Variation Report for NM_001089.3(ABCA3):c.4822G>T (p.Gly1608Cys)]

NM_001089.3(ABCA3):c.4822G>T (p.Gly1608Cys)

Gene:
ABCA3:ATP binding cassette subfamily A member 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_001089.3(ABCA3):c.4822G>T (p.Gly1608Cys)
HGVS:
  • NC_000016.10:g.2277966C>A
  • NG_011790.1:g.67781G>T
  • NM_001089.3:c.4822G>TMANE SELECT
  • NP_001080.2:p.Gly1608Cys
  • NC_000016.9:g.2327967C>A
  • NM_001089.2:c.4822G>T
Protein change:
G1608C
Links:
dbSNP: rs397518430
NCBI 1000 Genomes Browser:
rs397518430
Molecular consequence:
  • NM_001089.3:c.4822G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000106034Cole and Hamvas Lab, Washington University - St. Louisno assertion provideduntestednot providednot provided

Description

Zhuang Chinese

SCV000106034

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided2not providedliterature only

Details of each submission

From Cole and Hamvas Lab, Washington University - St. Louis, SCV000106034.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided

Description

Converted during submission to not provided.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided2not providednot providednot providednot providednot providednot provided

Last Updated: Nov 2, 2019

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