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HP c.998T>C ;(p.I333T)
Variant ID: 16-72094566-T-C
NM_005143.3(
HP
):c.998T>C;(p.I333T)
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: HP: 998T>C; I333T
PubMed Link:
35449176
Variant Present in the following documents:
41523_2022_417_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
A Supplement to TRANSFUSION Abstract Presentations from the AABB Annual Meeting Boston, MA, October 13-16, 2018.
Transfusion
Publication Date: 2018-10
Variant appearance in text: HP: 998T>C
PubMed Link:
30211950
Variant Present in the following documents:
Main text
View BVdb publication page