Full data view for gene ALPL

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

11 entries on 1 page. Showing entries 1 - 11.
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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     
+/. - c.668G>A r.(?) p.(Arg223Gln) - Unknown - pathogenic g.21894616G>A g.21568123G>A ALPL(NM_000478.6):c.668G>A (p.R223Q) - ALPL_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.668G>A r.(?) p.(Arg223Gln) - Unknown ACMG pathogenic g.21894616G>A g.21568123G>A Arg206Gln - ALPL_000034 - PubMed: del Angel 2020 - - Germline - - - - - DNA SEQ - - HPP - PubMed: del Angel 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 7 c.668G>A r.(?) p.(Arg223Gln) - Parent #2 ACMG pathogenic g.21894616G>A g.21568123G>A Arg206Gln - ALPL_000034 - PubMed: de Roo 2014 - - Germline - - - - - DNA SEQ - - HPP - PubMed: de Roo 2014 - - - - - - - - - 1 Johan den Dunnen
+/. 7 c.668G>A r.(?) p.(Arg223Gln) - Parent #2 ACMG pathogenic g.21894616G>A g.21568123G>A Arg206Gln - ALPL_000034 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Apr 2011 - - Germline - - - - - DNA SEQ - - HPP - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Apr 2011 - - - France - - - - - 1 Johan den Dunnen
+/. 7 c.668G>A r.(?) p.(Arg223Gln) - Parent #1 ACMG pathogenic g.21894616G>A g.21568123G>A Arg206Gln - ALPL_000034 - PubMed: Mumm 2002 - - Germline - - - - - DNA SEQ - - HPP Pat1 PubMed: Mumm 2002 - - - United States - - - - - 1 Johan den Dunnen
+/. 7 c.668G>A r.(?) p.(Arg223Gln) - Parent #1 ACMG pathogenic (recessive) g.21894616G>A g.21568123G>A Arg206Gln - ALPL_000034 - PubMed: Mumm 2002 - - Germline - - - - - DNA SEQ - - HPP Pat13 PubMed: Mumm 2002 - - - United States - - - - - 1 Johan den Dunnen
+/. 7 c.668G>A r.(?) p.(Arg223Gln) - Parent #2 ACMG pathogenic g.21894616G>A g.21568123G>A - - ALPL_000034 - PubMed: del Angel 2020 - - Germline - - - - - DNA SEQ - - HPP - PubMed: del Angel 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 7 c.668G>A r.(?) p.(Arg223Gln) - Parent #2 ACMG pathogenic g.21894616G>A g.21568123G>A - - ALPL_000034 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab March 2011 - - Germline - - - - - DNA SEQ - - HPP - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab March 2011 - - - France - - - - - 1 Johan den Dunnen
+/. 7 c.668G>A r.(?) p.(Arg223Gln) - Parent #2 ACMG pathogenic g.21894616G>A g.21568123G>A - - ALPL_000034 - PubMed: del Angel 2020 - - Germline - - - - - DNA SEQ - - HPP - PubMed: del Angel 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 7 c.668G>A - p.Arg223Gln 0.05 relative activity, 0.38 WT/combined activity Unknown - NA g.21894616G>A g.21568123G>A - - ALPL_000034 cDNA expression cloning varriant and variant+WT in MDCKII cells PubMed: del Angel 2020 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.668G>A r.(?) p.(Arg223Gln) - Unknown - likely pathogenic g.21894616G>A g.21568123G>A NM_000478.4:c.668G>A; p.R223Q - ALPL_000034 - PubMed: Nair 2018 - rs199665722 Unknown ? - - - - DNA SEQ-NG-I - whole exome sequencing HPP ? PubMed: Nair 2018 - ? - Lebanon - - - - - 1 LOVD
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