NF1 c.8378-3808A>T

Variant ID: 17-29697223-A-T

NM_001042492.2(NF1):c.8378-3808A>T

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes.

Hgg Advances
Canson, Daffodil M DM; O'Mara, Tracy A TA; Spurdle, Amanda B AB; Glubb, Dylan M DM
Publication Date: 2023-04-13

Variant appearance in text: NF1: 8378-3808A>T; rs2107359
PubMed Link: 36908940
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
  • mmc2.xlsx, sheet 3
View BVdb publication page



Genetically mediated Nf1 loss in mice promotes diverse radiation-induced tumors modeling second malignant neoplasms.

Cancer Research
Choi, Grace G; Huang, Brian B; Pinarbasi, Emile E; Braunstein, Steve E SE; Horvai, Andrew E AE; Kogan, Scott S; Bhatia, Smita S; Faddegon, Bruce B; Nakamura, Jean L JL
Publication Date: 2012-12-15

Variant appearance in text: rs2107359
PubMed Link: 23071067
Variant Present in the following documents:
  • Main text
View BVdb publication page



Males with familial idiopathic scoliosis: a distinct phenotypic subgroup.

Spine
Clough, Mark M; Justice, Cristina M CM; Marosy, Beth B; Miller, Nancy H NH
Publication Date: 2010-01-15

Variant appearance in text: rs2107359
PubMed Link: 20081511
Variant Present in the following documents:
  • Main text
View BVdb publication page