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PTPN22 c.1891G>A ;(p.A631T)
Variant ID: 1-114377535-C-T
NM_015967.5(
PTPN22
):c.1891G>A;(p.A631T)
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:
Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.
Frontiers In Genetics
Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A
Publication Date: 2023
Variant appearance in text: PTPN22: 1891G>A; Ala631Thr
PubMed Link:
36923788
Variant Present in the following documents:
Table3.xlsx, sheet 1
View BVdb publication page
Genetic Association of PTPN22 Polymorphisms with Autoimmune Hepatitis and Primary Biliary Cholangitis in Japan.
Scientific Reports
Umemura, Takeji T; Joshita, Satoru S; Yamazaki, Tomoo T; Komatsu, Michiharu M; Katsuyama, Yoshihiko Y; Yoshizawa, Kaname K; Tanaka, Eiji E; Ota, Masao M
Publication Date: 2016-07-11
Variant appearance in text: rs569454620
PubMed Link:
27406031
Variant Present in the following documents:
Main text
srep29770.pdf
View BVdb publication page