All variants in the ALPL gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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>C - p.Arg71Pro 0.04 relative activity, 0.60 WT/combined activity - NA g.21887620G>C g.21561127G>C - - ALPL_000093 cDNA expression cloning varriant and variant+WT in MDCKII cells PubMed: del Angel 2020 - - In vitro (cloned) - - - 0 - Johan den Dunnen
+/. - c.212G>C r.(?) p.(Arg71Pro) - - pathogenic g.21887620G>C g.21561127G>C - - ALPL_000093 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121918003 Germline - 1/2794 individuals - 0 - Mohammed Faruq
+/. 4 c.212G>C r.(?) p.(Arg71Pro) - ACMG pathogenic g.21887620G>C g.21561127G>C Arg54Pro - ALPL_000093 - PubMed: Henthorn 1992 - - Germline - - - 0 - Johan den Dunnen
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