Variant #0000646125 (NC_000001.10:g.21887592A>G, ALPL(NM_000478.4):c.184A>G)

Individual ID 00324665
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.21887592A>G
DNA change (hg38) g.21561099A>G
Published as -
ISCN -
DB-ID ALPL_000080
Variant remarks -
Reference PubMed: Spentchian 2003, Journal: Spentchian 2003
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.184A>G r.(?) p.(Met62Val) 2-16 U/L (normal >100)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000325873 DNA SEQ - - ALPL 1 Johan den Dunnen