COL4A5 c.2662G>T ;(p.A888S)

Variant ID: X-107863641-G-T

NM_033380.2(COL4A5):c.2662G>T;(p.A888S)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Follow-up analysis of voice quality in patients with late-onset Pompe disease.

Orphanet Journal Of Rare Diseases
Szklanny, Krzysztof K; Tylki-Szymańska, Anna A
Publication Date: 2018-10-26

Variant appearance in text: ATS: 2662G>T
PubMed Link: 30367637
Variant Present in the following documents:
  • Main text
  • 13023_2018_Article_932.pdf
View BVdb publication page


Analysis of voice quality in patients with late-onset Pompe disease.

Orphanet Journal Of Rare Diseases
Szklanny, Krzysztof K; Gubrynowicz, Ryszard R; Iwanicka-Pronicka, Katarzyna K; Tylki-Szymańska, Anna A
Publication Date: 2016-07-15

Variant appearance in text: ATS: 2662G>T
PubMed Link: 27417441
Variant Present in the following documents:
  • Main text
  • 13023_2016_Article_480.pdf
View BVdb publication page