Full data view for gene ALPL

Information The variants shown are described using the NM_000478.4 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     

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     
+/. 3 c.110T>C r.(?) p.(Leu37Pro) - Both (homozygous) ACMG pathogenic g.21887167T>C g.21560674T>C Leu20Pro - ALPL_000068 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Oct. 2003 - - Germline - - - 0 - DNA SEQ - - HPP - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Oct. 2003 - - - France - - 0 - - 1 Johan den Dunnen
+/. 3 p.(Leu37Pro) r.(?) p.(Leu37Pro) - Both (homozygous) ACMG pathogenic g.21887167T>C g.21560674T>C - - ALPL_000068 - PubMed: del Angel 2020 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: del Angel 2020 - - - - - - 0 - - 1 Johan den Dunnen
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