All variants in the GAA gene

Information The variants shown are described using the NM_000152.4 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     
+/. 2 c.444C>G - r.(?) p.(Tyr148*) pathogenic (recessive) g.80105030C>G - Hiew Fu Liong et al.(2014) GAA_000005 rs972668240 - - Nur Aisyah Athirah
-/. - c.1726G>A - r.(?) p.(Gly576Ser) Benign g.15517G>A - Zhong-Ming Ng et al.(2021): http://neurology-asia.org/articles/neuroasia-2021-26(2)-413.pdf GAA_000003 rs1800307 - - Nur Aisyah Athirah
-/. - c.2065G>A - r.(?) p.(Glu689Lys) Benign g.16687G>A - Zhong-Ming Ng et al.(2021): http://neurology-asia.org/articles/neuroasia-2021-26(2)-413.pdf GAA_000004 rs1800309 - - Nur Aisyah Athirah
+/. 16 c.2238G>C - r.(?) p.(Trp746Cys) Pathogenic/Likely pathogenic g.80117016G>C - Hiew Fu Liong et al.(2014) GAA_000001 rs1800312 - - Nur Aisyah Athirah
+/. - c.2238G>C - r.(?) p.(Trp746Cys) Pathogenic/Likely pathogenic​ g.20461G>C - Zhong-Ming Ng et al.(2021): http://neurology-asia.org/articles/neuroasia-2021-26(2)-413.pdf GAA_000001 rs1800312 - - Nur Aisyah Athirah
+/. - c.2815_2816del - r.(?) p.(Val939Leufs*78) Pathogenic g.22732_22733del - Zhong-Ming Ng et al.(2021): http://neurology-asia.org/articles/neuroasia-2021-26(2)-413.pdf GAA_000002 rs763359208 - - Nur Aisyah Athirah
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