NF1 c.1237T>G ;(p.S413A)

Variant ID: 17-29528480-T-G

NM_001042492.2(NF1):c.1237T>G;(p.S413A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Refining analyses of copy number variation identifies specific genes associated with developmental delay.

Nature Genetics
Coe, Bradley P BP; Witherspoon, Kali K; Rosenfeld, Jill A JA; van Bon, Bregje W M BW; Vulto-van Silfhout, Anneke T AT; Bosco, Paolo P; Friend, Kathryn L KL; Baker, Carl C; Buono, Serafino S; Vissers, Lisenka E L M LE; Schuurs-Hoeijmakers, Janneke H JH; Hoischen, Alex A; Pfundt, Rolph R; Krumm, Nik N; Carvill, Gemma L GL; Li, Deana D; Amaral, David D; Brown, Natasha N; Lockhart, Paul J PJ; Scheffer, Ingrid E IE; Alberti, Antonino A; Shaw, Marie M; Pettinato, Rosa R; Tervo, Raymond R; de Leeuw, Nicole N; Reijnders, Margot R F MR; Torchia, Beth S BS; Peeters, Hilde H; O'Roak, Brian J BJ; Fichera, Marco M; Hehir-Kwa, Jayne Y JY; Shendure, Jay J; Mefford, Heather C HC; Haan, Eric E; Gécz, Jozef J; de Vries, Bert B A BB; Romano, Corrado C; Eichler, Evan E EE
Publication Date: 2014-10

Variant appearance in text: NF1: S413A
PubMed Link: 25217958
Variant Present in the following documents:
  • Main text
  • nihms622928.pdf
View BVdb publication page