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TSC2 c.1911C>G ;(p.V637=)
Variant ID: 16-2121582-C-G
NM_000548.3(
TSC2
):c.1911C>G;(p.V637=)
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:
Mutational analysis of renal angiomyolipoma associated with tuberous sclerosis complex and the outcome of short-term everolimus therapy.
Scientific Reports
Ni, Jianxin J; Yan, Fengqi F; Qin, Weijun W; Yu, Lei L; Zhang, Geng G; Liu, Fei F; Yang, Xiaojian X; Yang, Bo B; Hao, Chunlin C; Wang, Teng T; Liu, Pengfei P; Yuan, Jianlin J; Wu, Guojun G
Publication Date: 2019-10-04
Variant appearance in text: TSC2: Val637Val
PubMed Link:
31586081
Variant Present in the following documents:
Main text
View BVdb publication page