Bibliome.ai browser hg19
Search
About
Stats
FAQ
MSH6 c.990A>T ;(p.S330=)
Variant ID: 2-48026112-A-T
NM_000179.2(
MSH6
):c.990A>T;(p.S330=)
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:
Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.
Npj Breast Cancer
Hu, Li L; Sun, Jie J; Li, Zhongwu Z; Qu, Ziwei Z; Liu, Yan Y; Wan, Qiting Q; Liu, Jiaming J; Ding, Xinyun X; Zang, Fan F; Zhang, Juan J; Yao, Lu L; Xu, Ye Y; Wang, Yin Y; Xie, Yuntao Y
Publication Date: 2022-04-21
Variant appearance in text: MSH6: 990A>T; S330=
PubMed Link:
35449176
Variant Present in the following documents:
41523_2022_417_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome.
International Journal Of Molecular Sciences
Liccardo, Raffaella R; De Rosa, Marina M; Rossi, Giovanni Battista GB; Carlomagno, Nicola N; Izzo, Paola P; Duraturo, Francesca F
Publication Date: 2017-05-06
Variant appearance in text: MSH6: 990A>T
PubMed Link:
28481244
Variant Present in the following documents:
Main text
ijms-18-00999.pdf
View BVdb publication page