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TSC2 c.4535A>C ;(p.D1512A)
Variant ID: 16-2134993-A-C
NM_000548.3(
TSC2
):c.4535A>C;(p.D1512A)
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:
A reliable cell-based assay for testing unclassified TSC2 gene variants.
European Journal Of Human Genetics : Ejhg
Coevoets, Ricardo R; Arican, Sermin S; Hoogeveen-Westerveld, Marianne M; Simons, Erik E; van den Ouweland, Ans A; Halley, Dicky D; Nellist, Mark M
Publication Date: 2009-03
Variant appearance in text: TSC2: D1512A
PubMed Link:
18854862
Variant Present in the following documents:
Main text
View BVdb publication page