MUC16 c.41286C>T ;(p.S13762=)

Variant ID: 19-8995955-G-A

NM_024690.2(MUC16):c.41286C>T;(p.S13762=)

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:

Familial chronic megacolon presenting in childhood or adulthood: Seeking the presumed gene association.

Neurogastroenterology And Motility : The Official Journal Of The European Gastrointestinal Motility Society
Camilleri, Michael M; Wieben, Eric E; Eckert, Deborah D; Carlson, Paula P; Hurley O'Dwyer, Ralph R; Gibbons, Denys D; Acosta, Andres A; Klee, Eric W EW
Publication Date: 2019-04

Variant appearance in text: MUC16: 41286C>T; S13762S
PubMed Link: 30663199
Variant Present in the following documents:
  • Main text
View BVdb publication page