MUC16 c.43136+331T>A

Variant ID: 19-8968549-A-T

NM_024690.2(MUC16):c.43136+331T>A

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway.

American Journal Of Human Genetics
Narkis, Ginat G; Ofir, Rivka R; Landau, Daniella D; Manor, Esther E; Volokita, Micha M; Hershkowitz, Relly R; Elbedour, Khalil K; Birk, Ohad S OS
Publication Date: 2007-09

Variant appearance in text: rs1862456
PubMed Link: 17701898
Variant Present in the following documents:
  • Main text
View BVdb publication page