Full data view for gene GAA

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

54 entries on 1 page. Showing entries 1 - 54.
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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     
?/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Unknown - VUS g.78078910del g.80105111del - - GAA_000028 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Unknown - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Hermans 1994 - - Germline - - - - - DNA SEQ - - GSD2 ? PubMed: Hermans 1994 - - - - - - - - - 1 Arnold Reuser
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Unknown - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Kroos 1995 - - Germline - - - - - DNA SEQ - - GSD2 ? PubMed: Kroos 1995 - - - - - - - - - 1 Arnold Reuser
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Unknown - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Hirschhorn 1999 - - Germline - - - - - DNA SEQ - - GSD2 ? PubMed: Hirschhorn 1999 - - - - - - - - - 1 Arnold Reuser
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) no protein on western blot Unknown ACMG pathogenic g.78078910del g.80105111del 525delT - GAA_000028 predicted very severe, classic infantile phenotype when combined with null allele; predicted CRIM- (no endogenous protein on Western blot) Pompe disease database 616 - rs386834235 SUMMARY record - MAF <0.01 - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.525del r.525del p.Glu176Argfs*45 - Parent #1 - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 0.01 copy number of 526g>a mRNA; residual activity in patient fibroblasts 0.03 PubMed: Hermans 2004 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - GSD2 01895140, 14695532-Pat28 PubMed: Chandler 1991, PubMed: Hermans 2004 - M - United Kingdom (Great Britain) - - - - - 1 Arnold Reuser
+/. - c.525del r.(?) p.(Glu176ArgfsTer45) - Unknown - pathogenic g.78078910del g.80105111del GAA(NM_000152.3):c.525delT (p.(Glu176ArgfsTer45)), GAA(NM_000152.3):c.525delT (p.E176Rfs*45), GAA(NM_000152.5):c.525delT (p.E176Rfs*45) - GAA_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.525del r.(?) p.(Glu176ArgfsTer45) - Unknown - VUS g.78078910del g.80105111del GAA(NM_000152.3):c.525delT (p.(Glu176ArgfsTer45)), GAA(NM_000152.3):c.525delT (p.E176Rfs*45), GAA(NM_000152.5):c.525delT (p.E176Rfs*45) - GAA_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #1 - pathogenic g.78078910del g.80105111del 525delT - GAA_000028 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #1 - pathogenic g.78078910del g.80105111del 525delT - GAA_000028 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #1 - pathogenic g.78078910del g.80105111del 525delT - GAA_000028 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #1 - pathogenic g.78078910del g.80105111del 525delT - GAA_000028 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #1 - pathogenic g.78078910del g.80105111del - - GAA_000028 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Both (homozygous) - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Pittis 2008 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Pittis 2008 family, 2 affected females F - Italy - - - shared by Pompe Center Rotterdam - 2 Pim Pijnappel
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Both (homozygous) - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Van den Hout 2004 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Van den Hout 2004 - F - Netherlands - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Both (homozygous) - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Kroos 1995 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Kroos 1995 - - - Netherlands - - - shared by Pompe Center Rotterdam - 5 Pim Pijnappel
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #1 - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Van den Hout 2004 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Van den Hout 2004 - F - Netherlands - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #1 - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - <a href='http://raredisorders.imedpub.com/muscle-mri-in-classic-infantilepompe-disease.php?aid=6697'>Wens 2015</a> - - Germline - - - - - DNA SEQ - - GSD2 - <a href='http://raredisorders.imedpub.com/muscle-mri-in-classic-infantilepompe-disease.php?aid=6697'>Wens 2015</a> - - - Netherlands - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #1 - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Pittis 2008 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Pittis 2008 - M - Italy - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #1 - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Vill 2015 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Vill 2015 - - - Germany - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #1 - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Messinger 2012 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Messinger 2012 - M - - white - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #1 - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Hermans 2004 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Hermans 2004 - - - Netherlands - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #1 - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Hermans 1994 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Hermans 1994 - F - Netherlands - 18y - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #1 - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Huie 1999 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Huie 1999 - M - - white 14m - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #1 - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Hermans 2004 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Hermans 2004 - - - Australia - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #1 - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Hermans 2004 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Hermans 2004 - M - Netherlands - 14y - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #1 - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Manwaring 2012 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Manwaring 2012 - F - United Kingdom (Great Britain) - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #1 - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Hermans 2004 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Hermans 2004 - - - Netherlands - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #1 - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Pittis 2008 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Pittis 2008 - M - Italy - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #1 - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Swarr 2012 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Swarr 2012 - M - United States - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #1 - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Kindel 2012 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Kindel 2012 - - - United States - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #1 - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Pittis 2008 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Pittis 2008 - F - Italy - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #1 - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Kroos 1995 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Kroos 1995 - - - Netherlands - - - shared by Pompe Center Rotterdam - 4 Pim Pijnappel
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #1 - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Banugaria 2013 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Banugaria 2013 - F - - African American - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #1 - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Hermans 2004 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Hermans 2004 - - - United Kingdom (Great Britain) - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #1 - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Pittis 2003 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Pittis 2003 - M - Italy - 3y - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #1 - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Pittis 2008 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Pittis 2008 - F - Italy - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #1 - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Wens 2012 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Wens 2012 - M - - white - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #1 - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Kroos 1998 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Kroos 1998 - - - Netherlands - - - shared by Pompe Center Rotterdam - 2 Pim Pijnappel
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #2 - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Wokke 1995 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Wokke 1995 family, 10 affected (6F, 4M) F;M - Netherlands - - - shared by Pompe Center Rotterdam - 10 Pim Pijnappel
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #2 - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Joshi 2008 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Joshi 2008 - - - Germany - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #2 - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Alejaldre 2012 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Alejaldre 2012 family, 6 affected (3F, 3M) F;M - - white - - shared by Pompe Center Rotterdam - 6 Pim Pijnappel
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #2 - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Nino 2013 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Nino 2013 - F - Colombia - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #2 - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Oba-Shinjo 2009 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Oba-Shinjo 2009 - M - Brazil - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #2 - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: McCready 2007 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: McCready 2007 - - - - white (1)/Anglo-Canadian (1) - - shared by Pompe Center Rotterdam - 2 Pim Pijnappel
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #2 - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Kroos 1995 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Kroos 1995 - - - - white - - shared by Pompe Center Rotterdam - 11 Pim Pijnappel
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #2 - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Montalvo 2006 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Montalvo 2006 family, 3 affected (2F, M) F;M - Italy - - - shared by Pompe Center Rotterdam - 3 Pim Pijnappel
+/. 2 c.525del r.(?) p.(Glu176Argfs*45) - Parent #2 - pathogenic (recessive) g.78078910del g.80105111del - - GAA_000028 - PubMed: Hermans 2004 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Hermans 2004 - - - Australia - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. - c.525del r.(?) p.(Glu176Argfs*45) - Parent #2 - pathogenic (recessive) g.78078910del g.80105111del 525delT - GAA_000028 - PubMed: Vanherpe 2020 - - Germline - - - - - DNA SEQ - - GSD Pat9 PubMed: Vanherpe 2020 - F - Belgium - - - - 13y enzyme replacement therapy 1 Johan den Dunnen
+/. - c.525del r.(?) p.(Glu176Argfs*45) - Parent #2 - pathogenic (recessive) g.78078910del g.80105111del 525delT - GAA_000028 - PubMed: Vanherpe 2020 - - Germline - - - - - DNA SEQ - - GSD Pat38 PubMed: Vanherpe 2020 - F - Belgium - - - - 9y enzyme replacement therapy 1 Johan den Dunnen
+/. - c.525del r.(?) p.(Glu176Argfs*45) - Parent #2 - pathogenic (recessive) g.78078910del g.80105111del 525delT - GAA_000028 - PubMed: Vanherpe 2020 - - Germline - - - - - DNA SEQ - - GSD Pat47 PubMed: Vanherpe 2020 - M - Belgium - - - - 11y enzyme replacement therapy 1 Johan den Dunnen
+/. - c.525del r.(?) p.(Glu176Argfs*45) - Parent #2 - pathogenic (recessive) g.78078910del g.80105111del 525delT - GAA_000028 - PubMed: Vanherpe 2020 - - Germline - - - - - DNA SEQ - - GSD Pat49 PubMed: Vanherpe 2020 - F - Belgium - - - - 2y enzyme replacement therapy 1 Johan den Dunnen
+?/. - c.525del r.(?) p.(Glu176Argfs*45) - Unknown - likely pathogenic g.78078910del g.80105111del - - GAA_000028 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 2 Johan den Dunnen
+/. - c.525del r.(?) p.(Glu176ArgfsTer45) - Unknown - pathogenic g.78078910del - GAA(NM_000152.3):c.525delT (p.(Glu176ArgfsTer45)), GAA(NM_000152.3):c.525delT (p.E176Rfs*45), GAA(NM_000152.5):c.525delT (p.E176Rfs*45) - GAA_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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