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TSC2 c.1553G>C ;(p.G518A)
Variant ID: 16-2114382-G-C
NM_000548.3(
TSC2
):c.1553G>C;(p.G518A)
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:
Hypoxia, angiogenesis, and metabolism in the hereditary kidney cancers.
The Journal Of Clinical Investigation
Chappell, John C JC; Payne, Laura Beth LB; Rathmell, W Kimryn WK
Publication Date: 2019-02-01
Variant appearance in text: TSC2: G518A
PubMed Link:
30614813
Variant Present in the following documents:
Main text
View BVdb publication page