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PC c.388G>C ;(p.A130P)
Variant ID: 11-66638885-C-G
NM_001040716.1(
PC
):c.388G>C;(p.A130P)
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:
Frequent Mutations of VHL Gene and the Clinical Phenotypes in the Largest Chinese Cohort With Von Hippel-Lindau Disease.
Frontiers In Genetics
Hong, Baoan B; Ma, Kaifang K; Zhou, Jingcheng J; Zhang, Jiufeng J; Wang, Jiangyi J; Liu, Shengjie S; Zhang, Zhongyuan Z; Cai, Lin L; Zhang, Ning N; Gong, Kan K
Publication Date: 2019
Variant appearance in text: PC: 388G>C
PubMed Link:
31620170
Variant Present in the following documents:
Main text
View BVdb publication page