rs149989682

plus

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

Reference

GRCh38.p2 38.2/146

Chromosome

16

Position

2317763

Gene

ABCA3

is a	snp
is	mentioned by
dbSNP	rs149989682
dbSNP (classic)	rs149989682
ClinGen	rs149989682
ebi	rs149989682
HLI	rs149989682
Exac	rs149989682
Gnomad	rs149989682
Varsome	rs149989682
LitVar	rs149989682
Map	rs149989682
PheGenI	rs149989682
Biobank	rs149989682
1000 genomes	rs149989682
hgdp	rs149989682
ensembl	rs149989682
geneview	rs149989682
scholar	rs149989682
google	rs149989682
pharmgkb	rs149989682
gwascentral	rs149989682
openSNP	rs149989682
23andMe	rs149989682
SNPshot	rs149989682
SNPdbe	rs149989682
MSV3d	rs149989682
GWAS Ctlg	rs149989682

Max Magnitude

9

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	Other
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	RCV000185556.3, RCV000224775.1,