Full data view for gene GAA

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

24 entries on 1 page. Showing entries 1 - 24.
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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     
+/. 14 c.1927G>A r.(?) p.(Gly643Arg) - Unknown - pathogenic (recessive) g.78086713G>A g.80112914G>A - - GAA_000021 - PubMed: Laforet 2000 - - Germline - - - - - DNA SEQ - - GSD2 ? PubMed: Laforet 2000 - - - - - - - - - 1 Arnold Reuser
+/. 14 c.1927G>A r.(?) p.(Gly643Arg) - Parent #1 - pathogenic (recessive) g.78086713G>A g.80112914G>A - - GAA_000021 impaired intracellular transport and maturation of enzyme, 1-2% remaining activity PubMed: Hermans 1993, OMIM:var0004 - - Germline - - - - - DNA SEQ - - GSD2 ? PubMed: Hermans 1993 2-generation family, 1 affected, unaffected heterozygous carrier parents - - - - - - - - 1 Arnold Reuser
+/. 14 c.1927G>A r.1927g>a p.Gly643Arg alpha-glucosidase <0.005, beta-glucosidase 0.4 Parent #1 - pathogenic (recessive) g.78086713G>A g.80112914G>A - - GAA_000021 2nd allele RNA not expressed, no variant identified PubMed: Hermans 1998 - - Germline - - - - - DNA SEQ - - GSD2 09521422-PatC PubMed: Hermans 1998 - - - Turkey - - - - - 1 Arnold Reuser
+/. 14 c.1927G>A r.(?) p.(Gly643Arg) - Unknown - NA g.78086713G>A g.80112914G>A G643R - GAA_000021 COS cell cDNA expression cloning shows no lysosomal alpha-glucosidase activity, severely impaired GAA-protein maturation and no secretion PubMed: Hermans 1998 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 14 c.1927G>A r.(?) p.(Gly643Arg) - Unknown ACMG pathogenic g.78086713G>A g.80112914G>A - - GAA_000021 predicted potentially less severe, classic infantile phenotype when combined with null allele; predicted CRIM? (protein expression unknown); Align GVGD class C65 (GV: 0.00-GD: 125.13), SIFT deleterious (score: 0), Mutation Taster disease causing (p-value: 1) Pompe disease database 932 - rs28937909 SUMMARY record - MAF <0.01 - - - - - - - - - - - - - - - - - - - - -
+/. - c.1927G>A r.(?) p.(Gly643Arg) - Unknown - pathogenic g.78086713G>A g.80112914G>A GAA(NM_000152.3):c.1927G>A (p.G643R) - GAA_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14 c.1927G>A r.(?) p.(Gly643Arg) - Parent #1 - pathogenic (recessive) g.78086713G>A g.80112914G>A - - GAA_000021 no 2nd variant reported PubMed: Hermans 1998 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Hermans 1998 - - - Turkey - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 14 c.1927G>A r.(?) p.(Gly643Arg) - Both (homozygous) - pathogenic (recessive) g.78086713G>A g.80112914G>A - - GAA_000021 - PubMed: Pittis 2008 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Pittis 2008 - M - Italy - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 14 c.1927G>A r.(?) p.(Gly643Arg) - Parent #1 - pathogenic (recessive) g.78086713G>A g.80112914G>A - - GAA_000021 - PubMed: Khan 2013 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Khan 2013 - M - Canada - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 14 c.1927G>A r.(?) p.(Gly643Arg) - Parent #1 - pathogenic (recessive) g.78086713G>A g.80112914G>A - - GAA_000021 - PubMed: McCready 2007 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: McCready 2007 - M - - white - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 14 c.1927G>A r.(?) p.(Gly643Arg) - Parent #1 - pathogenic (recessive) g.78086713G>A g.80112914G>A - - GAA_000021 - PubMed: Hermans 1993, PubMed: Trend 1985 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Hermans 1993, PubMed: Trend 1985 - F - United Kingdom (Great Britain) - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 14 c.1927G>A r.(?) p.(Gly643Arg) - Parent #1 - pathogenic (recessive) g.78086713G>A g.80112914G>A - - GAA_000021 - PubMed: Oba-Shinjo 2009 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Oba-Shinjo 2009 - M - Brazil - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 14 c.1927G>A r.(?) p.(Gly643Arg) - Parent #2 - pathogenic (recessive) g.78086713G>A g.80112914G>A - - GAA_000021 - PubMed: Sacconi 2010 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Sacconi 2010 - F - - white - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 14 c.1927G>A r.(?) p.(Gly643Arg) - Parent #2 - pathogenic (recessive) g.78086713G>A g.80112914G>A - - GAA_000021 - PubMed: Laforet 2000 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Laforet 2000 - F - France - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 14 c.1927G>A r.(?) p.(Gly643Arg) - Parent #2 - pathogenic (recessive) g.78086713G>A g.80112914G>A - - GAA_000021 - PubMed: Joshi 2008 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Joshi 2008 - - - Germany - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 14 c.1927G>A r.(?) p.(Gly643Arg) - Parent #2 - pathogenic (recessive) g.78086713G>A g.80112914G>A - - GAA_000021 - PubMed: Montalvo 2006 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Montalvo 2006 - F - Italy - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 14 c.1927G>A r.(?) p.(Gly643Arg) - Parent #2 - pathogenic (recessive) g.78086713G>A g.80112914G>A - - GAA_000021 - PubMed: Oba-Shinjo 2009 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Oba-Shinjo 2009 family, 3 affected (M/F/M) F;M - Brazil - - - shared by Pompe Center Rotterdam - 3 Pim Pijnappel
+/. 14 c.1927G>A r.(?) p.(Gly643Arg) - Parent #2 - pathogenic (recessive) g.78086713G>A g.80112914G>A - - GAA_000021 - PubMed: Pittis 2008 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Pittis 2008 - M - Italy - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 14 c.1927G>A r.(?) p.(Gly643Arg) - Parent #2 - pathogenic (recessive) g.78086713G>A g.80112914G>A - - GAA_000021 - PubMed: Cardone 2008 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Cardone 2008 - - - Italy - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 14 c.1927G>A r.(?) p.(Gly643Arg) - Parent #2 - pathogenic (recessive) g.78086713G>A g.80112914G>A - - GAA_000021 - PubMed: Remiche 2014 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Remiche 2014 - F - Italy - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 14 c.1927G>A r.(?) p.(Gly643Arg) - Parent #2 - pathogenic (recessive) g.78086713G>A g.80112914G>A - - GAA_000021 - PubMed: Pittis 2008 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Pittis 2008 - M - Italy - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 14 c.1927G>A r.(?) p.(Gly643Arg) - Parent #2 - pathogenic (recessive) g.78086713G>A g.80112914G>A - - GAA_000021 - PubMed: Swarr 2012 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Swarr 2012 - M - United States - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 14 c.1927G>A r.[1927g>a,1755_1928del,1889_1928del] p.[Gly643Arg,Leu587_Ala644del,Glu630Gly*53] - Unknown ACMG pathogenic (recessive) g.78086713G>A g.80112914G>A - - GAA_000021 detected after cycloheximide treatment cultured cells PubMed: Bergsma 2021 - - Germline/De novo (untested) - - - - - DNA, RNA, protein expr Fibroblasts - GSD2 Pat1 PubMed: Bergsma 2021 - - - - - - - - - 1 Atze Bergsma
+/. 14 c.1927G>A r.(?) p.(Gly643Arg) - Parent #1 - pathogenic g.78086713G>A g.80112914G>A - - GAA_000021 - - - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-3714 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
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