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.




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