Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934908
rs28934908
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.050 GeneticVariation BEFREE The p.Ala140Val mutation is recurrent, as it was already described in 4 families with X-linked mental retardation and in three sporadic male patients with intellectual disability. 27465203

2016

dbSNP: rs28934908
rs28934908
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.050 GeneticVariation BEFREE In this study, DNA samples from 363 male individuals with syndromic and non-syndromic mental retardation</span> and other psychiatric diseases were screened for A140V (419C>T) mutation in the MECP2 gene, considered the most frequent MECP2 mutation in males. 15814190

2005

dbSNP: rs28934908
rs28934908
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.050 GeneticVariation BEFREE This strongly suggests that A140V is a hot spot of mutation resulting in moderate to severe MR in males. 11885030

2002

dbSNP: rs28934908
rs28934908
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.050 GeneticVariation BEFREE Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening? 12325019

2002

dbSNP: rs28934908
rs28934908
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.050 GeneticVariation BEFREE The authors recently described a novel A140V MECP2 missense mutation in an Italian family with X-linked semidominant mental retardation. 11805248

2002