MED16 c.1524C>T ;(p.H508=)

Variant ID: 19-877010-G-A

NM_005481.2(MED16):c.1524C>T;(p.H508=)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

De novo mutations in moderate or severe intellectual disability.

Plos Genetics
Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL
Publication Date: 2014-10

Variant appearance in text: MED16: H508H
PubMed Link: 25356899
Variant Present in the following documents:
  • pgen.1004772.s004.xlsx, sheet 18
  • pgen.1004772.s004.xlsx, sheet 34
View BVdb publication page