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IDH1 c.509A>G ;(p.H170R)
Variant ID: 2-209110054-T-C
NM_005896.2(
IDH1
):c.509A>G;(p.H170R)
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:
Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.
Npj Genomic Medicine
Sakaguchi, Narumi N; Suyama, Mikita M
Publication Date: 2022-03-18
Variant appearance in text: IDH1: 509A>G; His170Arg; rs930048865
PubMed Link:
35304488
Variant Present in the following documents:
41525_2022_294_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page