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NF1 c.7428T>G ;(p.Y2476*)
Variant ID: 17-29677307-T-G
NM_001042492.2(
NF1
):c.7428T>G;(p.Y2476*)
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:
Diagnostic and therapeutic challenges of glioblastoma as an initial malignancy of constitutional mismatch repair deficiency (CMMRD): two case reports and a literature review.
Bmc Medical Genomics
Onishi, Shumpei S; Yamasaki, Fumiyuki F; Kuraoka, Kazuya K; Taguchi, Akira A; Takayasu, Takeshi T; Akagi, Kiwamu K; Hinoi, Takao T
Publication Date: 2023-01-16
Variant appearance in text: NF1: Y2476*
PubMed Link:
36647049
Variant Present in the following documents:
12920_2022_1403_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page
Clonal myelopoiesis promotes adverse outcomes in chronic kidney disease.
Leukemia
Dawoud, Ahmed A Z AAZ; Gilbert, Rodney D RD; Tapper, William J WJ; Cross, Nicholas C P NCP
Publication Date: 2022-02
Variant appearance in text: NF1: Y2476X
PubMed Link:
34413458
Variant Present in the following documents:
41375_2021_1382_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page