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CYBB c.308T>C ;(p.M103T)
Variant ID: X-37651283-T-C
NM_000397.3(
CYBB
):c.308T>C;(p.M103T)
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: 308T>C
PubMed Link:
35812758
Variant Present in the following documents:
Main text
fgene-13-871328.pdf
View BVdb publication page