rs199905054

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs199905054(A;A)

Make rs199905054(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

15

Position

29268916

Gene	FAM189A1, NSMCE3

is a	snp
is	mentioned by
dbSNP	rs199905054
dbSNP (classic)	rs199905054
ClinGen	rs199905054
ebi	rs199905054
HLI	rs199905054
Exac	rs199905054
Gnomad	rs199905054
Varsome	rs199905054
LitVar	rs199905054
Map	rs199905054
PheGenI	rs199905054
Biobank	rs199905054
1000 genomes	rs199905054
hgdp	rs199905054
ensembl	rs199905054
geneview	rs199905054
scholar	rs199905054
google	rs199905054
pharmgkb	rs199905054
gwascentral	rs199905054
openSNP	rs199905054
23andMe	rs199905054
SNPshot	rs199905054
SNPdbe	rs199905054
MSV3d	rs199905054
GWAS Ctlg	rs199905054

Max Magnitude

0

rs199905054, also known as c.790C>T, p.Leu264Phe and L264F, represents a missense change in the NSMCE3 gene on chromosome 15.

When homozygous or compound heterozygous, the rare rs199905054 minor allele can lead to fatal pneumonia in children, due to a chromosome breakage syndrome tentatively named lung disease immunodeficiency and chromosome breakage syndrome (LICS).[PMID 27427983 ]

ClinVar
Risk	rs199905054(A;A)
Alt	rs199905054(A;A)
Reference	Rs199905054(G;G)
Significance	Pathogenic
Disease	Lung damage Lung disease
Variation	info
Gene	NSMCE3 FAM189A1
CLNDBN	Lung damage, immunodeficiency and chromosome breakage syndrome Lung disease, immunodeficiency, and chromosome breakage syndrome
Reversed	0
HGVS	NC_000015.9:g.29561120G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000258542.1, RCV000412499.1,