All transcript variants in gene AMPD1

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

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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     
-?/. - c.51C>T r.(?) p.(Leu17=) - likely benign g.115238141G>A g.114695520G>A AMPD1(NM_000036.2):c.51C>T (p.L17=) - AMPD1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.133C>T r.(?) p.(Gln45Ter) - VUS g.115236057G>A g.114693436G>A - - AMPD1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.133C>T r.(?) p.(Gln45*) - VUS g.115236057G>A g.114693436G>A - - AMPD1_000009 126 heterozygous; Clinindb (India) Faruq 2020, submtted - rs17602729 Germline - 126/2795 individuals - 0 - Mohammed Faruq
?/. - c.133C>T r.(?) p.(Gln45*) - VUS g.115236057G>A g.114693436G>A - - AMPD1_000009 5 homozygous; Clinindb (India) Faruq 2020, submtted - rs17602729 Germline - 5/2795 individuals - 0 - Mohammed Faruq
+/. - c.133C>T r.(?) p.(Gln45Ter) - pathogenic g.115236057G>A - - - AMPD1_000009 - - - - Unknown - - - 0 - IMGAG
?/. - c.134-7_134-4del r.spl? p.? - VUS g.115231367_115231370del g.114688746_114688749del AMPD1(NM_000036.2):c.134-7_134-4delCTTT - AMPD1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.242C>T r.(?) p.(Pro81Leu) - VUS g.115231254G>A g.114688633G>A - - AMPD1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.242C>T r.(?) p.(Pro81Leu) - VUS g.115231254G>A g.114688633G>A - - AMPD1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.242C>T r.(?) p.(Pro81Leu) - VUS g.115231254G>A g.114688633G>A - - AMPD1_000001 - - - - Germline - - - 0 - Johan den Dunnen
-/. - c.242C>T r.(?) p.(Pro81Leu) - benign g.115231254G>A g.114688633G>A - - AMPD1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.242C>T r.(?) p.(Pro81Leu) - likely benign g.115231254G>A g.114688633G>A - - AMPD1_000001 130 heterozygous; Clinindb (India) Faruq 2020, submtted - rs61752479 Germline - 130/2795 individuals - 0 - Mohammed Faruq
-?/. - c.242C>T r.(?) p.(Pro81Leu) - likely benign g.115231254G>A g.114688633G>A - - AMPD1_000001 5 homozygous; Clinindb (India) Faruq 2020, submtted - rs61752479 Germline - 5/2795 individuals - 0 - Mohammed Faruq
-/. - c.323G>A r.(?) p.(Arg108His) - benign g.115229523C>T g.114686902C>T AMPD1(NM_000036.2):c.323G>A (p.R108H) - AMPD1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.481-4del r.spl? p.? - likely benign g.115226990del g.114684369del AMPD1(NM_000036.2):c.481-4delG - AMPD1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.493G>A r.(?) p.(Asp165Asn) - VUS g.115226973C>T g.114684352C>T - - AMPD1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.959A>T r.(?) p.(Lys320Ile) - benign g.115222237T>A g.114679616T>A AMPD1(NM_000036.2):c.959A>T (p.K320I) - AMPD1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.959A>T r.(?) p.(Lys320Ile) - VUS g.115222237T>A g.114679616T>A AMPD1(NM_000036.2):c.959A>T (p.K320I) - AMPD1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.959A>T r.(?) p.(Lys320Ile) - VUS g.115222237T>A g.114679616T>A - - AMPD1_000003 conflicting interpretations of pathogenicity; 84 heterozygous; Clinindb (India) Faruq 2020, submtted - rs34526199 Germline - 84/2737 individuals - 0 - Mohammed Faruq
?/. - c.959A>T r.(?) p.(Lys320Ile) - VUS g.115222237T>A g.114679616T>A - - AMPD1_000003 conflicting interpretations of pathogenicity; 2 homozygous; Clinindb (India) Faruq 2020, submtted - rs34526199 Germline - 2/2737 individuals - 0 - Mohammed Faruq
?/. - c.1029G>T r.(?) p.(Met343Ile) - VUS g.115221116C>A - AMPD1(NM_000036.2):c.1029G>T (p.M343I) - AMPD1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1261C>T r.(?) p.(Arg421Trp) - VUS g.115220593G>A g.114677972G>A - - AMPD1_000011 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs35859650 Germline - 2/2795 individuals - 0 - Mohammed Faruq
?/. - c.1373G>A r.(?) p.(Arg458His) - VUS g.115220086C>T g.114677465C>T - - AMPD1_000010 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs121912682 Germline - 2/2795 individuals - 0 - Mohammed Faruq
-?/. - c.1373G>A r.(?) p.(Arg458His) - likely benign g.115220086C>T g.114677465C>T - - AMPD1_000010 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.023 - 0 - Global Variome, with Curator vacancy
-?/. - c.2085G>A r.(?) p.(Met695Ile) - likely benign g.115216359C>T g.114673738C>T AMPD1(NM_000036.2):c.2085G>A (p.(Met695Ile)) - AMPD1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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