Full data view for gene AMPD1

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

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.242C>T r.(?) p.(Pro81Leu) Unknown - VUS g.115231254G>A g.114688633G>A - - AMPD1_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS-1 - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.242C>T r.(?) p.(Pro81Leu) Unknown - VUS g.115231254G>A g.114688633G>A - - AMPD1_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood, - ACRDYS-1, arthrogryposis - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.242C>T r.(?) p.(Pro81Leu) Unknown - VUS g.115231254G>A g.114688633G>A - - AMPD1_000001 - - - - Germline - - - 0 - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/. - c.242C>T r.(?) p.(Pro81Leu) Unknown - benign g.115231254G>A g.114688633G>A - - AMPD1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.242C>T r.(?) p.(Pro81Leu) Parent #1 - likely benign g.115231254G>A g.114688633G>A - - AMPD1_000001 130 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61752479 Germline - 130/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 130 Mohammed Faruq
-?/. - c.242C>T r.(?) p.(Pro81Leu) Both (homozygous) - likely benign g.115231254G>A g.114688633G>A - - AMPD1_000001 5 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61752479 Germline - 5/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 5 Mohammed Faruq
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