All variants in the ALPL gene

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

5 entries on 1 page. Showing entries 1 - 5.
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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     
./. - c.152C>T r.(?) p.(Ala51Val) - - VUS g.21887209C>T g.21560716C>T - - ALPL_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
+/. 3 c.152C>T r.(?) p.(Ala51Val) - ACMG pathogenic g.21887209C>T g.21560716C>T Ala34Val - ALPL_000001 - PubMed: Taillandier 2000 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.152C>T r.(?) p.(Ala51Val) - ACMG pathogenic g.21887209C>T g.21560716C>T Ala34Val - ALPL_000001 - PubMed: Taillandier 2001 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.152C>T r.(?) p.(Ala51Val) - ACMG pathogenic g.21887209C>T g.21560716C>T - - ALPL_000001 - PubMed: Taillandier 2001 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.152C>T - p.Ala51Val 0.04 relative activity, 0.52 WT/combined activity - 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 - Johan den Dunnen
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