TG c.1100_1151del ;(p.E367Afs*18)

Variant ID: 8-133898715-CGAAAGGCAGCAGGCCTTGTCCAGACTCTACTTTGGGACCTCAGGCTACTTCA-C

NM_003235.4(TG):c.1100_1151del;(p.E367Afs*18)

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:

Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters.

European Journal Of Human Genetics : Ejhg
Publication Date: 2020-12

Variant appearance in text: TG: 1099_1150del
PubMed Link: 33262486
Variant Present in the following documents:
  • 41431_2020_Article_741.pdf
View BVdb publication page