GAA c.1388_1406del ;(p.R463Pfs*8)

Variant ID: 17-78083803-GCGGAGGGGGGTTTTCATCA-G

NM_000152.3(GAA):c.1388_1406del;(p.R463Pfs*8)

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:

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: 1388_1406del
PubMed Link: 33560568
Variant Present in the following documents:
  • Main text
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: 1388_1406del
PubMed Link: 33560568
Variant Present in the following documents:
  • Main text
View BVdb publication page


GAA compound heterozygous mutations associated with autophagic impairment cause cerebral infarction in Pompe disease.

Aging
Jia, Xiaodong X; Shao, Libin L; Liu, Chengcheng C; Chen, Tuanzhi T; Peng, Ling L; Cao, Yinguang Y; Zhang, Chuanchen C; Yang, Xiafeng X; Zhang, Guifeng G; Gao, Jianlu J; Fan, Guangyi G; Gu, Mingliang M; Du, Hongli H; Xia, Zhangyong Z
Publication Date: 2020-03-03

Variant appearance in text: GAA: 1388_1406del; Arg463fs
PubMed Link: 32126021
Variant Present in the following documents:
  • Main text
  • aging-12-102879.pdf
View BVdb publication page


GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Human Mutation
Reuser, Arnold J J AJJ; van der Ploeg, Ans T AT; Chien, Yin-Hsiu YH; Llerena, Juan J; Abbott, Mary-Alice MA; Clemens, Paula R PR; Kimonis, Virginia E VE; Leslie, Nancy N; Maruti, Sonia S SS; Sanson, Bernd-Jan BJ; Araujo, Roberto R; Periquet, Magali M; Toscano, Antonio A; Kishnani, Priya S PS; On Behalf Of The Pompe Registry Sites,
Publication Date: 2019-11

Variant appearance in text: GAA: 1388_1406del
PubMed Link: 31342611
Variant Present in the following documents:
  • Main text
  • HUMU-40-2146-s001.pdf
View BVdb publication page