GLA c.733del ;(p.W245Gfs*24)

Variant ID: X-100653841-CA-C

NM_000169.2(GLA):c.733del;(p.W245Gfs*24)

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:

Fabry disease in a Japanese population-molecular and biochemical characteristics.

Molecular Genetics And Metabolism Reports
Sakuraba, Hitoshi H; Tsukimura, Takahiro T; Togawa, Tadayasu T; Tanaka, Toshie T; Ohtsuka, Tomoko T; Sato, Atsuko A; Shiga, Tomoko T; Saito, Seiji S; Ohno, Kazuki K
Publication Date: 2018-12

Variant appearance in text: GLA: 733delT
PubMed Link: 30386727
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page