NOTCH1 c.2435G>A ;(p.G812E)

Variant ID: 9-139407505-C-T

NM_017617.3(NOTCH1):c.2435G>A;(p.G812E)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Nonsyndromic craniosynostosis: novel coding variants.

Pediatric Research
Sewda, Anshuman A; White, Sierra R SR; Erazo, Monica M; Hao, Ke K; García-Fructuoso, Gemma G; Fernández-Rodriguez, Ivette I; Heuzé, Yann Y; Richtsmeier, Joan T JT; Romitti, Paul A PA; Reva, Boris B; Jabs, Ethylin Wang EW; Peter, Inga I
Publication Date: 2019-03

Variant appearance in text: NOTCH1: 2435G>A
PubMed Link: 30651579
Variant Present in the following documents:
  • Main text
  • nihms-1518148.pdf
View BVdb publication page