MUC16 c.46_48delinsGAG ;(p.S16E)

Variant ID: 19-9091767-GGA-CTC

NM_024690.2(MUC16):c.46_48delinsGAG;(p.S16E)

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:

Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders.

American Journal Of Human Genetics
Guo, Michael H MH; Dauber, Andrew A; Lippincott, Margaret F MF; Chan, Yee-Ming YM; Salem, Rany M RM; Hirschhorn, Joel N JN
Publication Date: 2016-09-01

Variant appearance in text: MUC16: S16E
PubMed Link: 27545677
Variant Present in the following documents:
  • Main text
View BVdb publication page