NM_001089.3(ABCA3):c.2467G>C (p.Ala823Pro) 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:
RCV000074418.1

Allele description [Variation Report for NM_001089.3(ABCA3):c.2467G>C (p.Ala823Pro)]

NM_001089.3(ABCA3):c.2467G>C (p.Ala823Pro)

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.2467G>C (p.Ala823Pro)
HGVS:
  • NC_000016.10:g.2292186C>G
  • NG_011790.1:g.53561G>C
  • NM_001089.3:c.2467G>CMANE SELECT
  • NP_001080.2:p.Ala823Pro
  • NC_000016.9:g.2342187C>G
  • NM_001089.2:c.2467G>C
Protein change:
A823P
Links:
dbSNP: rs397518428
NCBI 1000 Genomes Browser:
rs397518428
Molecular consequence:
  • NM_001089.3:c.2467G>C - 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
SCV000106032Cole and Hamvas Lab, Washington University - St. Louisno assertion provideduntestednot providednot provided

Description

Zhuang Chinese

SCV000106032

Summary from all submissions

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

Details of each submission

From Cole and Hamvas Lab, Washington University - St. Louis, SCV000106032.1

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

Description

Converted during submission to not provided.

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

Last Updated: Nov 2, 2019

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