ENG c.1117_1118insT ;(p.K373Ifs*23)

Variant ID: 9-130586599-T-TA

NM_001114753.2(ENG):c.1117_1118insT;(p.K373Ifs*23)

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:

Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Journal Of Medical Genetics
Abdalla, S A SA; Letarte, M M
Publication Date: 2006-02

Variant appearance in text: ENG: 1117_1118insT
PubMed Link: 15879500
Variant Present in the following documents:
  • Main text
View BVdb publication page