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     
+/. 3 c.98C>T r.(?) p.(Ala33Val) combined activity 6 U/L (normal >30) - pathogenic (recessive) g.21887155C>T g.21560662C>T A16V - ALPL_000066 - PubMed: Spentchian 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.98C>T r.(?) p.(Ala33Val) - ACMG pathogenic g.21887155C>T g.21560662C>T Ala16Val - ALPL_000066 - PubMed: Brun-Heath 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.98C>T r.(?) p.(Ala33Val) - ACMG pathogenic g.21887155C>T g.21560662C>T Ala16Val - ALPL_000066 - PubMed: Henthorn 1992 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.98C>T r.(?) p.(Ala33Val) - ACMG pathogenic g.21887155C>T g.21560662C>T Ala16Val - ALPL_000066 - PubMed: Reis 2020 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.98C>T - p.Ala33Val 0.12 relative activity, 0.63 WT/combined activity - NA g.21887155C>T g.21560662C>T - - ALPL_000066 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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