GAA c.2102T>A ;(p.L701Q)

Variant ID: 17-78087078-T-A

NM_000152.3(GAA):c.2102T>A;(p.L701Q)

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:

Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease.

Orphanet Journal Of Rare Diseases
van Kooten, Harmke A HA; Ditters, Imke A M IAM; Hoogeveen-Westerveld, Marianne M; Jacobs, Edwin H EH; van den Hout, Johanna M P JMP; van Doorn, Pieter A PA; Pijnappel, W W M Pim WWMP; van der Ploeg, Ans T AT; van der Beek, Nadine A M E NAME
Publication Date: 2022-02-02

Variant appearance in text: GAA: Leu701Gln
PubMed Link: 35109913
Variant Present in the following documents:
  • Main text
  • 13023_2022_Article_2175.pdf
View BVdb publication page


Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease.

Orphanet Journal Of Rare Diseases
van Kooten, Harmke A HA; Ditters, Imke A M IAM; Hoogeveen-Westerveld, Marianne M; Jacobs, Edwin H EH; van den Hout, Johanna M P JMP; van Doorn, Pieter A PA; Pijnappel, W W M Pim WWMP; van der Ploeg, Ans T AT; van der Beek, Nadine A M E NAME
Publication Date: 2022-02-02

Variant appearance in text: GAA: Leu701Gln
PubMed Link: 35109913
Variant Present in the following documents:
  • Main text
  • 13023_2022_Article_2175.pdf
View BVdb publication page