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rs149989682

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 9 Surfactant metabolism dysfunction, pulmonary, 3; severe neonatal condition
(A;T) 3 Carrier of severe neonatal mutation, for surfactant metabolism dysfunction
(T;T) 0 common in clinvar
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position2317763
GeneABCA3
is asnp
is mentioned by
dbSNPrs149989682
ClinGenrs149989682
ebirs149989682
HLIrs149989682
Exacrs149989682
Varsomers149989682
Maprs149989682
PheGenIrs149989682
hapmaprs149989682
1000 genomesrs149989682
hgdprs149989682
ensemblrs149989682
gopubmedrs149989682
geneviewrs149989682
scholarrs149989682
googlers149989682
pharmgkbrs149989682
gwascentralrs149989682
openSNPrs149989682
23andMers149989682
23andMe allrs149989682
SNP Nexus

SNPshotrs149989682
SNPdbers149989682
MSV3drs149989682
GWAS Ctlgrs149989682
Max Magnitude9

rs149989682, also known as c.875A>T, p.Glu292Val and E292V, represents a rare mutation in the ABCA3 gene on chromosome 16.

Inherited as an autosomal recessive, the rs149989682(A) allele - as oriented in dbSNP orientation - is considered pathogenic in ClinVar (and BabySeq) for surfactant metabolism dysfunction, pulmonary, type 3, a disorder involving severe neonatal distress that often results in the death of a newborn within the first month.

Note potential for ambiguous flip confusion.


ClinVar
Risk Rs149989682(A;A) rs149989682(C;C)
Alt Rs149989682(A;A) rs149989682(C;C)
Reference Rs149989682(T;T)
Significance Pathogenic
Disease Surfactant metabolism dysfunction not provided
Variation info
Gene ABCA3
CLNDBN Surfactant metabolism dysfunction, pulmonary, 3 not provided
Reversed 0
HGVS NC_000016.9:g.2367764T>A
CLNSRC
CLNACC RCV000185556.2, RCV000224775.1,