HR c.347del ;(p.P116Hfs*7)

Variant ID: 8-21986336-TG-T

NM_005144.4(HR):c.347del;(p.P116Hfs*7)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Long-term kidney function in children with Wilms tumour and constitutional WT1 pathogenic variant.

Pediatric Nephrology (Berlin, Germany)
Falcone, Maria Pia MP; Pritchard-Jones, Kathryn K; Brok, Jesper J; Mifsud, William W; Williams, Richard D RD; Nakata, Kayo K; Tugnait, Suzanne S; Al-Saadi, Reem R; Side, Lucy L; Anderson, John J; Duncan, Catriona C; Marks, Stephen D SD; Bockenhauer, Detlef D; Chowdhury, Tanzina T
Publication Date: 2022-04

Variant appearance in text: HR: 347del; Pro116fs
PubMed Link: 34608521
Variant Present in the following documents:
  • 467_2021_Article_5125.pdf
View BVdb publication page