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HMCN1 c.10363A>G ;(p.M3455V)
Variant ID: 1-186064443-A-G
NM_031935.2(
HMCN1
):c.10363A>G;(p.M3455V)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Identification of rare variants in novel candidate genes in pulmonary atresia patients by next generation sequencing.
Computational And Structural Biotechnology Journal
Shi, Xin X; Zhang, Li L; Bai, Kai K; Xie, Huilin H; Shi, Tieliu T; Zhang, Ruilin R; Fu, Qihua Q; Chen, Sun S; Lu, Yanan Y; Yu, Yu Y; Sun, Kun K
Publication Date: 2020
Variant appearance in text: HMCN1: M3455V
PubMed Link:
32128068
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.
Plos One
Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z
Publication Date: 2015
Variant appearance in text: HMCN1: 10363A>G; M3455V
PubMed Link:
26496393
Variant Present in the following documents:
pone.0140684.s004.xlsx, sheet 1
View BVdb publication page