rs80338759

Orientation

plus

Stabilized

plus

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

Make rs80338759(A;G)

Make rs80338759(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

71127931

Gene

MED12

is a	snp
is	mentioned by
dbSNP	rs80338759
dbSNP (classic)	rs80338759
ClinGen	rs80338759
ebi	rs80338759
HLI	rs80338759
Exac	rs80338759
Gnomad	rs80338759
Varsome	rs80338759
LitVar	rs80338759
Map	rs80338759
PheGenI	rs80338759
Biobank	rs80338759
1000 genomes	rs80338759
hgdp	rs80338759
ensembl	rs80338759
geneview	rs80338759
scholar	rs80338759
google	rs80338759
pharmgkb	rs80338759
gwascentral	rs80338759
openSNP	rs80338759
23andMe	rs80338759
SNPshot	rs80338759
SNPdbe	rs80338759
MSV3d	rs80338759
GWAS Ctlg	rs80338759

Max Magnitude

0

OMIM	300188
Desc
Variant	0002
Related	also

ClinVar
Risk	rs80338759(G;G)
Alt	rs80338759(G;G)
Reference	Rs80338759(A;A)
Significance	Pathogenic
Disease	X-linked mental retardation with marfanoid habitus syndrome
Variation	info
Gene	MED12
CLNDBN	X-linked mental retardation with marfanoid habitus syndrome
Reversed	0
HGVS	NC_000023.10:g.70347781A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012277.13,

[PMID 6711603] A form of X-linked mental retardation with marfanoid habitus.

[PMID 17369503] The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.