Variant #0000710029 (NC_000001.10:g.21887173A>G, ALPL(NM_000478.4):c.116A>G)

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.21887173A>G
DNA change (hg38) g.21560680A>G
Published as -
ISCN -
DB-ID ALPL_000455
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) 3.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     
ALPL NM_000478.4 +?/. 3 c.116A>G - p.Tyr39Cys 0.54 relative activity, 0.85 WT/combined activity