NF1 c.5476C>A ;(p.H1826N)

Variant ID: 17-29654724-C-A

NM_001042492.2(NF1):c.5476C>A;(p.H1826N)

This variant was identified in 3 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: 5476C>A; His1826Asn
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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Distinct mutation profiles between primary bladder cancer and circulating tumor cells warrant the use of circulating tumors cells as cellular resource for mutation follow-up.

Bmc Cancer
Kim, Tae-Min TM; Yoo, Jin-Seon JS; Moon, Hyong Woo HW; Hur, Kyung Jae KJ; Choi, Jin Bong JB; Hong, Sung-Hoo SH; Lee, Ji Youl JY; Ha, U-Syn US
Publication Date: 2020-12-07

Variant appearance in text: NF1: H1826N
PubMed Link: 33287735
Variant Present in the following documents:
  • 12885_2020_7684_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Basis of Extramedullary Plasmablastic Transformation of Multiple Myeloma.

The American Journal Of Surgical Pathology
Liu, Ying Y; Jelloul, Fatima F; Zhang, Yanming Y; Bhavsar, Tapan T; Ho, Caleb C; Rao, Mamta M; Lewis, Natasha E NE; Cimera, Robert R; Baik, Jeeyeon J; Sigler, Allison A; Sen, Filiz F; Yabe, Mariko M; Roshal, Mikhail M; Landgren, Ola O; Dogan, Ahmet A; Xiao, Wenbin W
Publication Date: 2020-06

Variant appearance in text: NF1: H1826N
PubMed Link: 32118627
Variant Present in the following documents:
  • Main text
View BVdb publication page