Full data view for gene ALPL

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

8 entries on 1 page. Showing entries 1 - 8.
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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.119C>T r.(?) p.(Ala40Val) - Parent #1 ACMG pathogenic g.21887176C>T g.21560683C>T Ala23Val - ALPL_000070 - PubMed: del Angel 2020 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: del Angel 2020 - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.119C>T r.(?) p.(Ala40Val) - Parent #1 ACMG pathogenic g.21887176C>T g.21560683C>T Ala23Val - ALPL_000070 - PubMed: del Angel 2020 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: del Angel 2020 - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.119C>T r.(?) p.(Ala40Val) - Parent #1 ACMG pathogenic g.21887176C>T g.21560683C>T Ala23Val - ALPL_000070 - PubMed: Mornet 1998 - - Germline - - - 0 - DNA SEQ - - HPP Mu1 PubMed: Mornet 1998 - - - Germany - - 0 - - 1 Johan den Dunnen
+/. 3 c.119C>T r.(?) p.(Ala40Val) - Parent #1 ACMG pathogenic g.21887176C>T g.21560683C>T Ala23Val - ALPL_000070 - PubMed: del Angel 2020 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: del Angel 2020 - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.119C>T r.(?) p.(Ala40Val) - Parent #1 ACMG pathogenic g.21887176C>T g.21560683C>T Ala23Val - ALPL_000070 - PubMed: del Angel 2020 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: del Angel 2020 - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.119C>T r.(?) p.(Ala40Val) - Parent #2 ACMG pathogenic g.21887176C>T g.21560683C>T - - ALPL_000070 - PubMed: Taillandier 2000 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Taillandier 2000 - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.119C>T r.(?) p.(Ala40Val) - Parent #2 ACMG pathogenic g.21887176C>T g.21560683C>T - - ALPL_000070 - PubMed: Taillandier 2001 - - Germline - - - 0 - DNA SEQ - - HPP - PubMed: Taillandier 2001 - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.119C>T - p.Ala40Val 0.07 relative activity, 0.87 WT/combined activity Unknown - NA g.21887176C>T g.21560683C>T - - ALPL_000070 cDNA expression cloning varriant and variant+WT in MDCKII cells PubMed: del Angel 2020 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
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