Full data view for gene GAA

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

64 entries on 1 page. Showing entries 1 - 64.
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Effect     

Exon     

AscendingDNA change (cDNA)     

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Protein     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Owner     
?/. 2 c.271G>A r.(?) p.(Asp91Asn) - Unknown - VUS g.78078656G>A g.80104857G>A - - GAA_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 2 c.271G>A r.(?) p.(Asp91Asn) - Unknown - VUS g.78078656G>A g.80104857G>A - - GAA_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 2 c.271G>A r.(?) p.(Asp91Asn) - Unknown - VUS g.78078656G>A g.80104857G>A - - GAA_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 2 c.271G>A r.(?) p.(Asp91Asn) - Unknown - VUS g.78078656G>A g.80104857G>A - - GAA_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 2 c.271G>A r.(?) p.(Asp91Asn) - Unknown - VUS g.78078656G>A g.80104857G>A - - GAA_000003 - - - - Germline - - - - - DNA SEQ-NG - - ADPKD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/. 2 c.271G>A r.(?) p.(Asp91Asn) - Unknown - benign g.78078656G>A g.80104857G>A - - GAA_000003 variant basis of GAA*2 allozyme PubMed: Martiniuk 1990, OMIM:var0001 - - Germline - - TaqI- 0 - DNA SEQ - - Healthy/Control ? PubMed: Martiniuk 1990 - - - - - - 0 - - 1 Arnold Reuser
-?/. 2 c.271G>A r.(?) p.(Asp91Asn) - Unknown - likely benign g.78078656G>A g.80104857G>A - - GAA_000003 - PubMed: Hermans 1998 - - Germline - - - 0 - DNA SEQ - - GSD-2 09521422-PatC PubMed: Hermans 1998 - - - Turkey - - 0 - - 1 Arnold Reuser
-?/. - c.271G>A r.(?) p.(Asp91Asn) - Unknown - likely benign g.78078656G>A g.80104857G>A GAA(NM_000152.3):c.271G>A (p.D91N, p.(Asp91Asn)) - GAA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.271G>A r.(?) p.(Asp91Asn) - Unknown - benign g.78078656G>A g.80104857G>A GAA(NM_000152.3):c.271G>A (p.D91N, p.(Asp91Asn)) - GAA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.271G>A r.(?) p.(Asp91Asn) - Unknown - likely benign g.78078656G>A g.80104857G>A GAA(NM_000152.3):c.271G>A (p.D91N, p.(Asp91Asn)) - GAA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - F - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel Healthy/Control, LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - VUS g.78078656G>A g.80104857G>A - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - VUS g.78078656G>A g.80104857G>A - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Unknown - benign g.78078656G>A g.80104857G>A - - GAA_000003 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
-?/. 2 c.271G>A r.(?) p.(Asp91Asn) lowers affinity for glycogen (GAA2) Unknown ACMG likely benign g.78078656G>A g.80104857G>A - - GAA_000003 predicted presumably non-pathogenic, unknown phenotype when combined with null allele; predicted CRIM+ (protein expressed); Align GVGD class C0 (GV: 65.47-GD: 3.99), SIFT tolerated (score: 0.08), Mutation Taster polymorphism (p-value: 0) Pompe disease database 587 - rs1800299 SUMMARY record - MAF >0.01 - 0 - - - - - - - - - - - - - - - - - - -
-?/. 2 c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - likely benign g.78078656G>A g.80104857G>A - - GAA_000003 - - - - Germline - - - 0 - DNA SEQ - - Healthy/Control - - - - - - - - 0 shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 2 c.271G>A r.[271g>a, -32_486del, -32_546del] p.[Asp91=, 0?] - Unknown - NA g.78078656G>A g.80104857G>A - - GAA_000003 functional analysis using expression cloning in minigene splicing assay Dardis 2019, submitted - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.271G>A r.(?) p.(Asp91Asn) - Unknown - VUS g.78078656G>A g.80104857G>A GAA(NM_000152.3):c.271G>A (p.D91N, p.(Asp91Asn)) - GAA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.271G>A r.(?) p.(Asp91Asn) - Parent #1 - benign g.78078656G>A g.80104857G>A - - GAA_000003 34 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs1800299 Germline - 34/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 34 Mohammed Faruq
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