Full data view for gene GAA

Information The variants shown are described using the NM_000152.3 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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Effect     

ClassClinical     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. pathogenic (recessive) 2 c.118C>T r.(?) p.(Arg40*) - Unknown g.78078503C>T g.80104704C>T - - GAA_000056 - PubMed: Laforet 2000 - - Germline - - - 0 - DNA SEQ - - GSD-2 ? PubMed: Laforet 2000 - - - - - - 0 - - 1 Arnold Reuser
+/. pathogenic (recessive) 2 c.118C>T r.(?) p.(Arg40*) - Unknown g.78078503C>T g.80104704C>T - - GAA_000056 - PubMed: Kroos 1997 - - Germline - - - 0 - DNA SEQ - - GSD-2 ? PubMed: Kroos 1997 - - - - - - 0 - - 1 Arnold Reuser
+/. ACMG: 5 2 c.118C>T r.(?) p.(Arg40*) - Unknown g.78078503C>T g.80104704C>T - - GAA_000056 predicted very severe, classic infantile phenotype when combined with null allele; predicted CRIM- (protein not expressed) Pompe disease database 13 - rs767409395 SUMMARY record - MAF <0.01 - 0 - - - - - - - - - - - - - - - - - - -
+/. pathogenic (recessive) - c.118C>T r.(?) p.(Arg40*) 0.30 Parent #1 g.78078503C>T - - - GAA_000056 GAA activity allele in parent fibroblasts 0.30 (combined 0.08) PubMed: Oitan 2018 - - Germline - - - 0 - DNA SEQ - - BMD, GSD-2 patient PubMed: Oitan 2018 - M - Japan - - 0 - - 1 Johan den Dunnen
+/. pathogenic (recessive) 2 c.118C>T r.(?) p.(Arg40*) - Both (homozygous) g.78078503C>T g.80104704C>T - - GAA_000056 - PubMed: Kroos 1997 - - Germline - - - 0 - DNA SEQ - - GSD-2 - PubMed: Kroos 1997 - - - Pakistan - 11m 0 shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. pathogenic (recessive) 2 c.118C>T r.(?) p.(Arg40*) - Both (homozygous) g.78078503C>T g.80104704C>T - - GAA_000056 - PubMed: McCready 2007 - - Germline - - - 0 - DNA SEQ - - GSD-2 - PubMed: McCready 2007 - - - Portugal - - 0 shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. pathogenic (recessive) 2 c.118C>T r.(?) p.(Arg40*) - Parent #1 g.78078503C>T g.80104704C>T - - GAA_000056 - PubMed: Sampaolo 2013 - - Germline - - - 0 - DNA SEQ - - GSD-2 - PubMed: Sampaolo 2013 family, 7 affected (4F, 3M) F;M - Italy - - 0 shared by Pompe Center Rotterdam - 7 Pim Pijnappel
+/. pathogenic (recessive) 2 c.118C>T r.(?) p.(Arg40*) - Parent #2 g.78078503C>T g.80104704C>T - - GAA_000056 - PubMed: Sacconi 2010 - - Germline - - - 0 - DNA SEQ - - GSD-2 - PubMed: Sacconi 2010 - F - France - - 0 shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. pathogenic (recessive) 2 c.118C>T r.(?) p.(Arg40*) - Parent #2 g.78078503C>T g.80104704C>T - - GAA_000056 - PubMed: Laforet 2000 - - Germline - - - 0 - DNA SEQ - - GSD-2 - PubMed: Laforet 2000 - F - France - - 0 shared by Pompe Center Rotterdam - 1 Pim Pijnappel
?/. ACMG: 3 2 c.136T>C r.(?) p.(Ser46Pro) gives 100% residual activity in expression study Unknown g.78078521T>C - - - GAA_000056 predicted non-pathogenic, classic infantile phenotype when combined with null allele; predicted CRIM+ (protein expressed); Align GVGD class C0 (GV: 353.86-GD: 0.00), SIFT tolerated (score: 0.26), Mutation Taster polymorphism (p-value: 1) Pompe disease database 14 - rs777215354 SUMMARY record - MAF <0.01 - 0 - - - - - - - - - - - - - - - - - - -
?/. VUS 2 c.136T>C r.(?) p.(Ser46Pro) - Parent #2 g.78078521T>C - - - GAA_000056 - PubMed: Oba-Shinjo 2009 - - Germline - - - 0 - DNA SEQ - - GSD-2 - PubMed: Oba-Shinjo 2009 - M - Brazil - - 0 shared by Pompe Center Rotterdam - 1 Pim Pijnappel
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