Variant #0000646133 (NC_000001.10:g.21887610_21887612del, ALPL(NM_000478.4):c.202_204del)

Individual ID 00324751
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.21887610_21887612del
DNA change (hg38) g.21561117_21561119del
Published as Thr51del
ISCN -
DB-ID ALPL_000087
Variant remarks -
Reference copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, S. Lazarus, Royal Brisbane Women's Hospital, Herston, Australia
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 ?/. 4 c.202_204del r.(?) p.(Thr68del) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000325958 DNA SEQ - - ALPL 1 Johan den Dunnen