Full data view for gene ALPL

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

6 entries on 1 page. Showing entries 1 - 6.
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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.152C>T r.(?) p.(Ala51Val) - Unknown - VUS g.21887209C>T g.21560716C>T - - ALPL_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ blood - ACRDYS1 - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. 3 c.152C>T r.(?) p.(Ala51Val) - Parent #2 ACMG pathogenic g.21887209C>T g.21560716C>T Ala34Val - ALPL_000001 - PubMed: Taillandier 2000 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Taillandier 2000 - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.152C>T r.(?) p.(Ala51Val) - Parent #1 ACMG pathogenic g.21887209C>T g.21560716C>T Ala34Val - ALPL_000001 - PubMed: Taillandier 2001 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Taillandier 2001 - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.152C>T r.(?) p.(Ala51Val) - Parent #2 ACMG pathogenic g.21887209C>T g.21560716C>T - - ALPL_000001 - PubMed: Taillandier 2001 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Taillandier 2001 - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.152C>T - p.Ala51Val 0.04 relative activity, 0.52 WT/combined activity Unknown - NA g.21887209C>T g.21560716C>T - - ALPL_000001 cDNA expression cloning varriant and variant+WT in MDCKII cells PubMed: del Angel 2020 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 p.(Ala51Val) r.(?) p.(Ala51Val) - Both (homozygous) ACMG pathogenic g.21887209C>T g.21560716C>T - - ALPL_000001 - PubMed: del Angel 2020 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: del Angel 2020 - - - - - - 0 - - 1 Johan den Dunnen
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