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HMCN1 c.9091G>A ;(p.G3031S)
Variant ID: 1-186056393-G-A
NM_031935.2(
HMCN1
):c.9091G>A;(p.G3031S)
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: G3031S
PubMed Link:
32128068
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05
Variant appearance in text: HMCN1: G3031S
PubMed Link:
27377421
Variant Present in the following documents:
ncomms12072-s6.xlsx, sheet 1
View BVdb publication page