All variants in the ALPL gene

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     

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     
+/. 4 c.212G>A r.(?) p.(Arg71His) - ACMG pathogenic g.21887620G>A g.21561127G>A Arg54His - ALPL_000094 - PubMed: Reibel 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.212G>A r.(?) p.(Arg71His) - ACMG pathogenic (recessive) g.21887620G>A - Arg54His - ALPL_000094 - PubMed: Mumm 2002 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.212G>A r.(?) p.(Arg71His) - ACMG pathogenic g.21887620G>A g.21561127G>A Arg54His - ALPL_000094 - PubMed: Taillandier 2001 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.212G>A r.(?) p.(Arg71His) - ACMG pathogenic g.21887620G>A g.21561127G>A - - ALPL_000094 - PubMed: Whyte 2015 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.212G>A r.(?) p.(Arg71His) - ACMG pathogenic g.21887620G>A g.21561127G>A Arg54His - ALPL_000094 - PubMed: Mao 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.212G>A - p.Arg71His 0.07 relative activity, 0.33 WT/combined activity - NA g.21887620G>A g.21561127G>A - - ALPL_000094 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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