NOTCH1 c.3597C>T ;(p.L1199=)

Variant ID: 9-139401803-G-A

NM_017617.3(NOTCH1):c.3597C>T;(p.L1199=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease.

Frontiers In Genetics
Flück, Christa E CE; Audí, Laura L; Fernández-Cancio, Mónica M; Sauter, Kay-Sara KS; Martinez de LaPiscina, Idoia I; Castaño, Luis L; Esteva, Isabel I; Camats, Núria N
Publication Date: 2019

Variant appearance in text: NOTCH1: 3597C>T; Leu1199=; rs150666307
PubMed Link: 31555317
Variant Present in the following documents:
  • Main text
  • fgene-10-00746.pdf
View BVdb publication page