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NF1 c.1921A>G ;(p.S641G)
Variant ID: 17-29552188-A-G
NM_001042492.2(
NF1
):c.1921A>G;(p.S641G)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.
European Journal Of Human Genetics : Ejhg
Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T
Publication Date: 2021-08
Variant appearance in text: NF1: 1921A>G; Ser641Gly; rs769154907
PubMed Link:
33840814
Variant Present in the following documents:
41431_2021_878_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.
European Journal Of Human Genetics : Ejhg
Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T
Publication Date: 2021-08
Variant appearance in text: NF1: 1921A>G; Ser641Gly; rs769154907
PubMed Link:
33840814
Variant Present in the following documents:
41431_2021_878_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page
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: rs769154907
PubMed Link:
30274822
Variant Present in the following documents:
mmc1.xls, sheet 1
View BVdb publication page