Variant #0000646120 (NC_000001.10:g.21887209C>T, ALPL(NM_000478.4):p.(Ala51Val))

Individual ID 00324696
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.21887209C>T
DNA change (hg38) g.21560716C>T
Published as -
ISCN -
DB-ID ALPL_000001 See all 6 reported entries
Variant remarks -
Reference PubMed: del Angel 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 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 p.(Ala51Val) r.(?) p.(Ala51Val) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000325903 DNA SEQ - - ALPL 1 Johan den Dunnen