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NF1 c.7346T>A ;(p.V2449D)
Variant ID: 17-29677225-T-A
NM_001042492.2(
NF1
):c.7346T>A;(p.V2449D)
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:
Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture.
Ebiomedicine
Isakov, Ofer O; Wallis, Deeann D; Evans, D Gareth DG; Ben-Shachar, Shay S
Publication Date: 2018-10
Variant appearance in text: rs751593609
PubMed Link:
30274822
Variant Present in the following documents:
mmc1.xls, sheet 1
View BVdb publication page