TG c.2387_2388insC ;(p.L797Sfs*30)

Variant ID: 8-133900439-A-AC

NM_003235.4(TG):c.2387_2388insC;(p.L797Sfs*30)

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:

Identification of three novel NHS mutations in families with Nance-Horan syndrome.

Molecular Vision
Huang, Kristen M KM; Wu, Junhua J; Brooks, Simon P SP; Hardcastle, Alison J AJ; Lewis, Richard Alan RA; Stambolian, Dwight D
Publication Date: 2007-03-27

Variant appearance in text: TG: 2387insC
PubMed Link: 17417607
Variant Present in the following documents:
  • Main text
View BVdb publication page