Variant #0000710097 (NC_000001.10:g.21880614C>T, ALPL(NM_000478.4):c.40C>T)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.21880614C>T
DNA change (hg38) g.21554121C>T
Published as -
ISCN -
DB-ID ALPL_000452
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) 4.0E-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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     
ALPL NM_000478.4 -?/. 2 c.40C>T - p.Leu14Phe 1.06 relative activity, 1.13 WT/combined activity