Full data view for gene AMPD1

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

8 entries on 1 page. Showing entries 1 - 8.
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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:c.51C>T (L17=) - AMPD1_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - 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 Francesca Marta Elli
?/. - 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 Francesca Marta Elli
?/. - 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 Francesca Marta Elli
?/. - c.242C>T - r.(?) p.(Pro81Leu) Unknown g.115231254G>A g.114688633G>A - - AMPD1_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-?/. - c.481-4del likely benign r.spl? p.? Unknown g.115226989del - AMPD1:c.481-4delG - AMPD1_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.959A>T benign r.(?) p.(Lys320Ile) Unknown g.115222237T>A - AMPD1:c.959A>T (K320I) - AMPD1_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2085G>A likely benign r.(?) p.(Met695Ile) Unknown g.115216359C>T - DENND2C:NM_000036.2:c.2085G>A, NM_001172626.1:c.2073G>A, … - AMPD1_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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