GAA c.1501_1515del ;(p.D501

GAA c.1501_1515del ;(p.D501_E505del)

Variant ID: 17-78084585-GGAGGACATGGTGGCT-G

NM_000152.3(GAA):c.1501_1515del;(p.D501_E505del)

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:

Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.

Bmc Medical Genomics

Cannon, S S; Williams, M M; Gunning, A C AC; Wright, C F CF

Publication Date: 2023-02-28

Variant appearance in text: GAA: 1499_1513del

PubMed Link: 36855133

Variant Present in the following documents:

12920_2023_1454_MOESM2_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: 1501_1515del

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: 1501_1515del

PubMed Link: 33560568

Variant Present in the following documents:

Main text

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,

Variant ID: 17-78084585-GGAGGACATGGTGGCT-G

NM_000152.3(GAA):c.1501_1515del;(p.D501_E505del)

This variant was identified in 3 publications

Variant-Specific Resource Links:

Publications:

Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.

Bmc Medical Genomics

Cannon, S S; Williams, M M; Gunning, A C AC; Wright, C F CF

Publication Date: 2023-02-28

Variant appearance in text: GAA: 1499_1513del

PubMed Link: 36855133

Variant Present in the following documents:

12920_2023_1454_MOESM2_ESM.xlsx, sheet 1

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: 1501_1515del

PubMed Link: 33560568

Variant Present in the following documents:

Main text

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: 1501_1515del

PubMed Link: 33560568

Variant Present in the following documents:

Main text

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

Human Mutation

Publication Date: 2019-11

Variant appearance in text: GAA: 1498_1512del

PubMed Link: 31342611

Variant Present in the following documents:

HUMU-40-2146-s001.pdf