Variant #0000761000 (NC_000001.10:g.21880576T>C, ALPL(NM_000478.4):c.2T>C)

Individual ID 00359646
Chromosome 1
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.21880576T>C
DNA change (hg38) g.21554083T>C
Published as -
ISCN -
DB-ID ALPL_000500
Variant remarks ACMG PVS1, PM2, PM3
Reference PubMed: Tang 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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 +/. - c.2T>C r.(?) p.(Met1?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000360876 DNA SEQ;SEQ-NG - WES ALPL 2 Johan den Dunnen