Unique variants in gene AMPD1

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

9 entries on 1 page. Showing entries 1 - 9.
Legend  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.51C>T likely benign r.(?) p.(=) g.115238141G>A - AMPD1(NM_000036.2):c.51C>T (p.L17=) - AMPD1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.133C>T VUS r.(?) p.(Gln45*) g.115236057G>A - AMPD1(NM_000036.2):c.133C>T (p.(Gln45*)) - AMPD1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.134-7_134-4del VUS r.spl? p.? g.115231367_115231370del - AMPD1(NM_000036.2):c.134-7_134-4delCTTT - AMPD1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -/. 5 - c.242C>T benign r.(?) p.(Pro81Leu) g.115231254G>A g.114688633G>A AMPD1(NM_000036.2):c.242C>T (p.(Pro81Leu)) - AMPD1_000001 VKGL data sharing initiative Nederland - - - Germline, CLASSIFICATION record - - - - - Gerard C.P. Schaafsma, VKGL-NL, Johan den Dunnen
-/. 1 - c.323G>A benign r.(?) p.(Arg108His) g.115229523C>T - AMPD1(NM_000036.2):c.323G>A (p.R108H) - AMPD1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.481-4del likely benign r.spl? p.? g.115226990del - AMPD1(NM_000036.2):c.481-4delG - AMPD1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.493G>A VUS r.(?) p.(Asp165Asn) g.115226973C>T - AMPD1(NM_000036.2):c.493G (p.(Asp165Asn)) - AMPD1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -/. 2 - c.959A>T VUS, benign r.(?) p.(Lys320Ile) g.115222237T>A - AMPD1(NM_000036.2):c.959A>T (p.K320I) - AMPD1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Utrecht
-?/. 1 - c.2085G>A likely benign r.(?) p.(Met695Ile) g.115216359C>T - AMPD1(NM_000036.2):c.2085G>A (p.(Met695Ile), p.(Met691Ile)) - AMPD1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
Legend