NOTCH1 c.3052_3053delinsAC ;(p.C1018T)

Variant ID: 9-139403440-CA-GT

NM_017617.3(NOTCH1):c.3052_3053delinsAC;(p.C1018T)

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:

Genetics of Congenital Heart Defects: The NKX2-5 Gene, a Key Player.

Genes
Chung, Ill-Min IM; Rajakumar, Govindasamy G
Publication Date: 2016-01-23

Variant appearance in text: NOTCH1: C1018T
PubMed Link: 26805889
Variant Present in the following documents:
  • Main text
View BVdb publication page