CYBB c.1049T>C ;(p.F350S)

Variant ID: X-37663281-T-C

NM_000397.3(CYBB):c.1049T>C;(p.F350S)

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:

Case Report: Novel Compound Heterozygotic Variants in PPP2R3C Gene Causing Syndromic 46, XY Gonadal Dysgenesis and Literature Review.

Frontiers In Genetics
Zhang, Wei W; Mao, Jiangfeng J; Wang, Xi X; Sun, Bang B; Zhao, Zhiyuan Z; Zhang, Xiaoxia X; Nie, Min M; Wu, Xueyan X
Publication Date: 2022

Variant appearance in text: CGD: 1049T>C
PubMed Link: 35812758
Variant Present in the following documents:
  • Main text
  • fgene-13-871328.pdf
View BVdb publication page