MAF c.908A>T ;(p.Q303L)

Variant ID: 16-79632892-T-A

NM_005360.4(MAF):c.908A>T;(p.Q303L)

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:

Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).

Bmc Medical Genetics
Javadiyan, Shari S; Craig, Jamie E JE; Sharma, Shiwani S; Lower, Karen M KM; Casey, Theresa T; Haan, Eric E; Souzeau, Emmanuelle E; Burdon, Kathryn P KP
Publication Date: 2017-05-08

Variant appearance in text: c-MAF: Gln303Leu
PubMed Link: 28482824
Variant Present in the following documents:
  • Main text
  • 12881_2017_Article_414.pdf
View BVdb publication page