CYBB c.160_162delinsTGT ;(p.R54C)

Variant ID: X-37642761-AGG-TGT

NM_000397.3(CYBB):c.160_162delinsTGT;(p.R54C)

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:

Anti-müllerian hormone: a valuable addition to the toolbox of the pediatric endocrinologist.

International Journal Of Endocrinology
Josso, Nathalie N; Rey, Rodolfo A RA; Picard, Jean-Yves JY
Publication Date: 2013

Variant appearance in text: CGD: R54C
PubMed Link: 24382961
Variant Present in the following documents:
  • IJE2013-674105.pdf
View BVdb publication page