Have questions? Visit https://www.reddit.com/r/SNPedia

rs199905054

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199905054(A;A)
Make rs199905054(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome15
Position29268916
GeneFAM189A1, NSMCE3
is asnp
is mentioned by
dbSNPrs199905054
ClinGenrs199905054
ebirs199905054
HLIrs199905054
Exacrs199905054
Varsomers199905054
Maprs199905054
PheGenIrs199905054
hapmaprs199905054
1000 genomesrs199905054
hgdprs199905054
ensemblrs199905054
gopubmedrs199905054
geneviewrs199905054
scholarrs199905054
googlers199905054
pharmgkbrs199905054
gwascentralrs199905054
openSNPrs199905054
23andMers199905054
23andMe allrs199905054
SNP Nexus

SNPshotrs199905054
SNPdbers199905054
MSV3drs199905054
GWAS Ctlgrs199905054
Max Magnitude0
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 27427983OA-icon.png]

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,