Variant #0000710108 (NC_000001.10:g.21889760G>A, ALPL(NM_000478.4):c.455G>A)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.21889760G>A
DNA change (hg38) g.21563267G>A
Published as -
ISCN -
DB-ID ALPL_000002 See all 7 reported entries
Variant remarks cDNA expression cloning varriant and variant+WT in MDCKII cells
Reference PubMed: del Angel 2020
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.01157 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     
ALPL NM_000478.4 +?/. 5 c.455G>A - p.Arg152His 0.83 relative activity, 1.05 WT/combined activity