GAA c.2380dup ;(p.R794Pfs*2)

Variant ID: 17-78091443-T-TC

NM_000152.3(GAA):c.2380dup;(p.R794Pfs*2)

This variant was identified in 3 publications

View GRCh38 version.



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

Publications:

Haplotype-resolved de novo assembly of the Vero cell line genome.

Npj Vaccines
Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA
Publication Date: 2021-08-20

Variant appearance in text: GAA: 2377dupC
PubMed Link: 34417462
Variant Present in the following documents:
  • 41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page


Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

Human Mutation
de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP
Publication Date: 2021-02

Variant appearance in text: GAA: 2380dup
PubMed Link: 33560568
Variant Present in the following documents:
  • Main text
  • HUMU-42-119.pdf
View BVdb publication page


Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

Human Mutation
de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP
Publication Date: 2021-02

Variant appearance in text: GAA: 2380dup
PubMed Link: 33560568
Variant Present in the following documents:
  • Main text
  • HUMU-42-119.pdf
View BVdb publication page


Pompe disease in Austria: clinical, genetic and epidemiological aspects.

Journal Of Neurology
Löscher, W N WN; Huemer, M M; Stulnig, T M TM; Simschitz, P P; Iglseder, S S; Eggers, C C; Moser, H H; Möslinger, D D; Freilinger, M M; Lagler, F F; Grinzinger, S S; Reichhardt, M M; Bittner, R E RE; Schmidt, W M WM; Lex, U U; Brunner-Krainz, M M; Quasthoff, S S; Wanschitz, J V JV
Publication Date: 2018-01

Variant appearance in text: GAA: 2380dupC
PubMed Link: 29181627
Variant Present in the following documents:
  • Main text
  • 415_2017_Article_8686.pdf
View BVdb publication page