HR c.595_599del ;(p.F199Lfs*118)

Variant ID: 8-21986085-GCTGAA-G

NM_005144.4(HR):c.595_599del;(p.F199Lfs*118)

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:

A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family.

Eye (London, England)
Berry, V V; Pontikos, N N; Moore, A A; Ionides, A C W ACW; Plagnol, V V; Cheetham, M E ME; Michaelides, M M
Publication Date: 2018-04

Variant appearance in text: HR: 595_599del
PubMed Link: 29243736
Variant Present in the following documents:
  • Main text
View BVdb publication page