TSC2 c.739A>G ;(p.I247V)

Variant ID: 16-2106735-A-G

NM_000548.3(TSC2):c.739A>G;(p.I247V)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Detection and analysis of common pathogenic germline mutations in Peutz-Jeghers syndrome.

World Journal Of Gastroenterology
Gu, Guo-Li GL; Zhang, Zhi Z; Zhang, Yu-Hui YH; Yu, Peng-Fei PF; Dong, Zhi-Wei ZW; Yang, Hai-Rui HR; Yuan, Ying Y
Publication Date: 2021-10-21

Variant appearance in text: TSC2: 739A>G; I247V
PubMed Link: 34754157
Variant Present in the following documents:
  • Main text
  • WJG-27-6631.pdf
View BVdb publication page