NF1 c.1297T>C ;(p.Y433H)

Variant ID: 17-29533294-T-C

NM_001042492.2(NF1):c.1297T>C;(p.Y433H)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing.

Npj Genomic Medicine
van Eyk, C L CL; Webber, D L DL; Minoche, A E AE; PĂ©rez-Jurado, L A LA; Corbett, M A MA; Gardner, A E AE; Berry, J G JG; Harper, K K; MacLennan, A H AH; Gecz, J J
Publication Date: 2021-09-16

Variant appearance in text: NF1: 1297T>C
PubMed Link: 34531397
Variant Present in the following documents:
  • 41525_2021_238_MOESM1_ESM.pdf
View BVdb publication page