Variant #0000646110 (NC_000001.10:g.21887155C>T, ALPL(NM_000478.4):c.98C>T)

Individual ID 00324649
Chromosome 1
Allele Parent #1
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.21887155C>T
DNA change (hg38) g.21560662C>T
Published as A16V
ISCN -
DB-ID ALPL_000066 See all 5 reported entries
Variant remarks -
Reference PubMed: Spentchian 2006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-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 +/. 3 c.98C>T r.(?) p.(Ala33Val) combined activity 6 U/L (normal >30)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000325848 DNA SEQ - - ALPL 2 Johan den Dunnen