All variants in the ALPL gene

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

8 entries on 1 page. Showing entries 1 - 8.
Legend   How to query  

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.119C>T r.(?) p.(Ala40Val) - ACMG pathogenic g.21887176C>T g.21560683C>T Ala23Val - ALPL_000070 - PubMed: del Angel 2020 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.119C>T r.(?) p.(Ala40Val) - ACMG pathogenic g.21887176C>T g.21560683C>T Ala23Val - ALPL_000070 - PubMed: del Angel 2020 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.119C>T r.(?) p.(Ala40Val) - ACMG pathogenic g.21887176C>T g.21560683C>T Ala23Val - ALPL_000070 - PubMed: Mornet 1998 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.119C>T r.(?) p.(Ala40Val) - ACMG pathogenic g.21887176C>T g.21560683C>T Ala23Val - ALPL_000070 - PubMed: del Angel 2020 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.119C>T r.(?) p.(Ala40Val) - ACMG pathogenic g.21887176C>T g.21560683C>T Ala23Val - ALPL_000070 - PubMed: del Angel 2020 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.119C>T r.(?) p.(Ala40Val) - ACMG pathogenic g.21887176C>T g.21560683C>T - - ALPL_000070 - PubMed: Taillandier 2000 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.119C>T r.(?) p.(Ala40Val) - ACMG pathogenic g.21887176C>T g.21560683C>T - - ALPL_000070 - PubMed: Taillandier 2001 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.119C>T - p.Ala40Val 0.07 relative activity, 0.87 WT/combined activity - 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 - Johan den Dunnen
Legend   How to query