rs750610248

plus

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

Make rs750610248(A;G)

Make rs750610248(G;G)

Reference

GRCh38.p7 38.3/149

Chromosome

14

Position

99175513

Gene

BCL11B

is a	snp
is	mentioned by
dbSNP	rs750610248
dbSNP (classic)	rs750610248
ClinGen	rs750610248
ebi	rs750610248
HLI	rs750610248
Exac	rs750610248
Gnomad	rs750610248
Varsome	rs750610248
LitVar	rs750610248
Map	rs750610248
PheGenI	rs750610248
Biobank	rs750610248
1000 genomes	rs750610248
hgdp	rs750610248
ensembl	rs750610248
geneview	rs750610248
scholar	rs750610248
google	rs750610248
pharmgkb	rs750610248
gwascentral	rs750610248
openSNP	rs750610248
23andMe	rs750610248
SNPshot	rs750610248
SNPdbe	rs750610248
MSV3d	rs750610248
GWAS Ctlg	rs750610248

Max Magnitude

0

rs750610248, also known as c.1323T>G, p.Asn441Lys and N441K, represents a rare mutation in the BCL11B gene on chromosome 14.

The rs750610248(C) mutation can act as a dominant negative, leading in heterozygous condition to severe combined immunodeficiency (SCID).[PMID 27959755 ] A news item about this, citing this as an example of finding a mutation leading to "boy in the bubble” disease, can be found here.

Note that the mutation is represented here as it is in dbSNP, i.e. in forward strand orientation; the mutation is not the alternate allele listed in dbSNP, which is a benign synonymous polymorphism.

ClinVar
Risk	rs750610248(C;C) rs750610248(G;G)
Alt	rs750610248(C;C) rs750610248(G;G)
Reference	Rs750610248(A;A)
Significance	Pathogenic
Disease	Combined immunodeficiency Immunodeficiency 49
Variation	info
Gene	BCL11B
CLNDBN	Combined immunodeficiency Immunodeficiency 49
Reversed	0
HGVS	NC_000014.8:g.99641850A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000241534.1, RCV000412543.1,