NF1 c.2388del ;(p.A797Pfs*24)

Variant ID: 17-29554599-CA-C

NM_001042492.2(NF1):c.2388del;(p.A797Pfs*24)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: NF1: 2388del; Ala797fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Clinical characteristics and mutation Spectrum of NF1 in 12 Chinese families with orbital/periorbital plexiform Neurofibromatosis type 1.

Bmc Medical Genetics
Chai, Peiwei P; Luo, Yingxiu Y; Zhou, Chuandi C; Wang, Yefei Y; Fan, Xianqun X; Jia, Renbing R
Publication Date: 2019-09-18

Variant appearance in text: NF1: 2385delA
PubMed Link: 31533651
Variant Present in the following documents:
  • Main text
View BVdb publication page