Full data view for gene AMPD1

Information The variants shown are described using the NM_000036.2 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.51C>T likely benign r.(?) p.(=) Unknown g.115238141G>A - AMPD1(NM_000036.2):c.51C>T (p.L17=) - AMPD1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.133C>T VUS r.(?) p.(Gln45*) Unknown g.115236057G>A - AMPD1(NM_000036.2):c.133C>T (p.(Gln45*)) - AMPD1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.134-7_134-4del VUS r.spl? p.? Unknown g.115231367_115231370del - AMPD1(NM_000036.2):c.134-7_134-4delCTTT - AMPD1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.242C>T - r.(?) p.(Pro81Leu) Unknown g.115231254G>A g.114688633G>A - - AMPD1_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS-1, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.242C>T - r.(?) p.(Pro81Leu) Unknown g.115231254G>A g.114688633G>A - - AMPD1_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS-1 - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.242C>T - r.(?) p.(Pro81Leu) Unknown g.115231254G>A g.114688633G>A - - AMPD1_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood, - ACRDYS-1, arthrogryposis - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.242C>T - r.(?) p.(Pro81Leu) Unknown g.115231254G>A g.114688633G>A - - AMPD1_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-/. - c.242C>T benign r.(?) p.(Pro81Leu) Unknown g.115231254G>A - AMPD1(NM_000036.2):c.242C>T (p.(Pro81Leu)) - AMPD1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.323G>A benign r.(?) p.(Arg108His) Unknown g.115229523C>T - AMPD1(NM_000036.2):c.323G>A (p.R108H) - AMPD1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.481-4del likely benign r.spl? p.? Unknown g.115226990del - AMPD1(NM_000036.2):c.481-4delG - AMPD1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.493G>A VUS r.(?) p.(Asp165Asn) Unknown g.115226973C>T - AMPD1(NM_000036.2):c.493G (p.(Asp165Asn)) - AMPD1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.959A>T benign r.(?) p.(Lys320Ile) Unknown g.115222237T>A - AMPD1(NM_000036.2):c.959A>T (p.K320I) - AMPD1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.959A>T VUS r.(?) p.(Lys320Ile) Unknown g.115222237T>A - AMPD1(NM_000036.2):c.959A>T (p.K320I) - AMPD1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2085G>A likely benign r.(?) p.(Met695Ile) Unknown g.115216359C>T - AMPD1(NM_000036.2):c.2085G>A (p.(Met695Ile), p.(Met691Ile)) - AMPD1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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