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PC c.545A>G ;(p.E182G)
Variant ID: 11-66638611-T-C
NM_001040716.1(
PC
):c.545A>G;(p.E182G)
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:
Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations.
Orphanet Journal Of Rare Diseases
Yu, Meng M; Zhu, Ying Y; Lu, Yuanyuan Y; Lv, He H; Zhang, Wei W; Yuan, Yun Y; Wang, Zhaoxia Z
Publication Date: 2020-12-09
Variant appearance in text: PC: 545A>G
PubMed Link:
33298082
Variant Present in the following documents:
13023_2020_Article_1626.pdf
View BVdb publication page