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rs80338759

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80338759(A;G)
Make rs80338759(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71127931
GeneMED12
is asnp
is mentioned by
dbSNPrs80338759
ebirs80338759
HLIrs80338759
Exacrs80338759
Varsomers80338759
Maprs80338759
PheGenIrs80338759
hapmaprs80338759
1000 genomesrs80338759
hgdprs80338759
ensemblrs80338759
gopubmedrs80338759
geneviewrs80338759
scholarrs80338759
googlers80338759
pharmgkbrs80338759
gwascentralrs80338759
openSNPrs80338759
23andMers80338759
23andMe allrs80338759
SNP Nexus

SNPshotrs80338759
SNPdbers80338759
MSV3drs80338759
GWAS Ctlgrs80338759
Max Magnitude0
OMIM300188
Desc
Variant0002
Relatedalso
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
CLNACC RCV000012277.12,


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


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