CYBB c.508G>A ;(p.A170T)

Variant ID: X-37655228-G-A

NM_000397.3(CYBB):c.508G>A;(p.A170T)

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: Long-term follow-up of desert hedgehog variant caused 46, XY gonadal dysgenesis with multiple complications in a Chinese child.

Frontiers In Genetics
Pan, Lili L; Li, Zhuoguang Z; Su, Zhe Z; Su, Wei W; Zheng, Rongfei R; Chen, Weiyan W; He, Xuezhi X; Song, Jianming J; Li, Shoulin S; Wen, Pengqiang P
Publication Date: 2022

Variant appearance in text: CGD: 508G>A
PubMed Link: 36072668
Variant Present in the following documents:
  • Main text
  • fgene-13-954288.pdf
View BVdb publication page