NOTCH1 c.6100T>C ;(p.W2034R)

Variant ID: 9-139393431-A-G

NM_017617.3(NOTCH1):c.6100T>C;(p.W2034R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.

Human Mutation
Meester, Josephina A N JAN; Sukalo, Maja M; Schröder, Kim C KC; Schanze, Denny D; Baynam, Gareth G; Borck, Guntram G; Bramswig, Nuria C NC; Duman, Duygu D; Gilbert-Dussardier, Brigitte B; Holder-Espinasse, Muriel M; Itin, Peter P; Johnson, Diana S DS; Joss, Shelagh S; Koillinen, Hannele H; McKenzie, Fiona F; Morton, Jenny J; Nelle, Heike H; Reardon, Willie W; Roll, Claudia C; Salih, Mustafa A MA; Savarirayan, Ravi R; Scurr, Ingrid I; Splitt, Miranda M; Thompson, Elizabeth E; Titheradge, Hannah H; Travers, Colm P CP; Van Maldergem, Lionel L; Whiteford, Margo M; Wieczorek, Dagmar D; Vandeweyer, Geert G; Trembath, Richard R; Van Laer, Lut L; Loeys, Bart L BL; Zenker, Martin M; Southgate, Laura L; Wuyts, Wim W
Publication Date: 2018-09

Variant appearance in text: NOTCH1: 6100T>C; Trp2034Arg
PubMed Link: 29924900
Variant Present in the following documents:
  • Main text
  • HUMU-39-1246.pdf
  • HUMU-39-1246-s001.pdf
View BVdb publication page