All variants in the ALPL gene

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

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     

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     
+/. 2 c.46_49del r.(?) p.(Asn16Profs*2) - ACMG pathogenic g.21880620_21880623del g.21554127_21554130del 43_46delACTA - ALPL_000054 - PubMed: de Roo 2014 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.46_49del r.(?) p.(Asn16Profs*2) - ACMG pathogenic g.21880620_21880623del g.21554127_21554130del pAsn-2Profs - ALPL_000054 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Vidmar 2017, copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.46_49del r.(?) p.(Asn16Profs*2) - ACMG pathogenic g.21880620_21880623del g.21554127_21554130del pAsn-2Profs - ALPL_000054 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab March 2011 - - Germline - - - 0 - Johan den Dunnen
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