Full data view for gene GAA

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

19 entries on 1 page. Showing entries 1 - 19.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     

Allele     

Classification method     

Clinical classification     

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 at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 5 c.925G>A r.(?) p.(Gly309Arg) - Unknown - pathogenic (recessive) g.78081665G>A g.80107866G>A - - GAA_000065 - PubMed: Kroos 1998 - - Germline - - - - - DNA SEQ - - GSD2 ? PubMed: Kroos 1998 - - - - - - - - - 1 Arnold Reuser
+?/. 5 c.925G>A r.(?) p.(Gly309Arg) affects processing in expression study Unknown ACMG likely pathogenic g.78081665G>A g.80107866G>A - - GAA_000065 predicted potentially less severe, classic infantile phenotype when combined with null allele; predicted CRIM+ (endogenous protein on Western blot) ; Align GVGD class C25 (GV: 55.27-GD: 95.76), SIFT deleterious (score: 0.01), Mutation Taster disease causing (p-value: 1) Pompe disease database 694 - rs543300039 SUMMARY record - MAF <0.01 - - - - - - - - - - - - - - - - - - - - -
+/. - c.925G>A r.(?) p.(Gly309Arg) - Unknown - pathogenic g.78081665G>A g.80107866G>A GAA(NM_000152.3):c.925G>A (p.G309R), GAA(NM_000152.5):c.925G>A (p.G309R) - GAA_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.925G>A r.(?) p.(Gly309Arg) - Unknown - pathogenic g.78081665G>A g.80107866G>A GAA(NM_000152.3):c.925G>A (p.G309R), GAA(NM_000152.5):c.925G>A (p.G309R) - GAA_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 5 c.925G>A r.(?) p.(Gly309Arg) - Maternal (confirmed) - pathogenic (!) g.78081665G>A g.80107866G>A - - GAA_000065 pathogenic potential less severe Labrijn-Marks et al, submitted - - Germline - - - - - DNA SEQ Blood/Fibroblast - GSD PatC Labrijn-Marks et al, submitted - - - Netherlands - <00y02m14d - - - 1 Marianne Hoogeveen-Westerveld
+/+? 5 c.925G>A r.(?) p.(Gly309Arg) - Paternal (inferred) - pathogenic (!) g.78081665G>A g.80107866G>A - - GAA_000065 pathogenic potential less severe; maternal segmental isodisomy chromosome 17 Labrijn-Marks et al, submitted - - Uniparental disomy, maternal allele - - - - - DNA SEQ Blood/Fibroblast - GSD PatC Labrijn-Marks et al, submitted - - - Netherlands - <00y02m14d - - - 1 Marianne Hoogeveen-Westerveld
+/+? 5 c.925G>A r.(?) p.(Gly309Arg) - Paternal (confirmed) - pathogenic (!) g.78081665G>A g.80107866G>A - - GAA_000065 pathogenic potential less severe Labrijn-Marks et al, submitted - - Germline - - - - - DNA SEQ Blood/Fibroblast - GSD PatE Labrijn-Marks et al, submitted - - - Netherlands - - - - - 1 Marianne Hoogeveen-Westerveld
+/+? 5 c.925G>A r.(?) p.(Gly309Arg) - Maternal (inferred) - pathogenic (!) g.78081665G>A g.80107866G>A - - GAA_000065 paternal mosaic segmental isodisomy chromosome 17; pathogenic potential less severe Labrijn-Marks et al, submitted - - Somatic - - - - - DNA SEQ Blood/Fibroblast - GSD PatE Labrijn-Marks et al, submitted - - - Netherlands - - - - - 1 Marianne Hoogeveen-Westerveld
+?/. 5 c.925G>A r.(?) p.(Gly309Arg) - Both (homozygous) - likely pathogenic g.78081665G>A g.80107866G>A - - GAA_000065 - PubMed: Elder 2013 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Elder 2013 - M - - Hispanic - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 5 c.925G>A r.(?) p.(Gly309Arg) - Parent #1 - likely pathogenic g.78081665G>A g.80107866G>A - - GAA_000065 - PubMed: Markic 2014 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Markic 2014 - F - Croatia (Hrvatska) - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 5 c.925G>A r.(?) p.(Gly309Arg) - Parent #1 - likely pathogenic g.78081665G>A g.80107866G>A - - GAA_000065 - PubMed: Kroos 1998 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Kroos 1998 - - - Netherlands - - - shared by Pompe Center Rotterdam - 3 Pim Pijnappel
+?/. 5 c.925G>A r.(?) p.(Gly309Arg) - Parent #2 - likely pathogenic g.78081665G>A g.80107866G>A - - GAA_000065 - PubMed: Kroos 2006 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Kroos 2006 - F - Greece - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 5 c.925G>A r.(?) p.(Gly309Arg) - Parent #2 - likely pathogenic g.78081665G>A g.80107866G>A - - GAA_000065 - PubMed: Montalvo 2006 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Montalvo 2006 - F - Italy - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 5 c.925G>A r.(?) p.(Gly309Arg) - Parent #2 - likely pathogenic g.78081665G>A g.80107866G>A - - GAA_000065 - PubMed: Kroos 1998 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Kroos 1998 - - - Netherlands - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 5 c.925G>A r.(?) p.(Gly309Arg) - Parent #2 - likely pathogenic g.78081665G>A g.80107866G>A - - GAA_000065 - PubMed: Gort 2007 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Gort 2007 - - - Spain - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 5 c.925G>A r.(?) p.(Gly309Arg) - Parent #2 - likely pathogenic g.78081665G>A g.80107866G>A - - GAA_000065 - PubMed: Kroos 1998 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Kroos 1998 - - - Netherlands - - - shared by Pompe Center Rotterdam - 2 Pim Pijnappel
+?/. 5 c.925G>A r.(?) p.(Gly309Arg) - Parent #2 - likely pathogenic g.78081665G>A g.80107866G>A - - GAA_000065 - PubMed: Wens 2012 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Wens 2012 - - - Netherlands - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+?/. 5 c.925G>A r.(?) p.(Gly309Arg) - Parent #2 - likely pathogenic g.78081665G>A g.80107866G>A - - GAA_000065 - PubMed: Aminoso 2013 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Aminoso 2013 - M - Spain - 17m - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. - c.925G>A r.(?) p.(Gly309Arg) - Unknown - pathogenic g.78081665G>A - GAA(NM_000152.3):c.925G>A (p.G309R), GAA(NM_000152.5):c.925G>A (p.G309R) - GAA_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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