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