Variant #0000646093 (NC_000001.10:g.21880577G>A, ALPL(NM_000478.4):c.3G>A)

Individual ID 00324929
Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.21880577G>A
DNA change (hg38) g.21554084G>A
Published as Met-17Ile
ISCN -
DB-ID ALPL_000049
Variant remarks unknown variant 2nd allele
Reference PubMed: Mentrup 2011
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     
ALPL NM_000478.4 +?/. 2 c.3G>A r.(?) p.(Met1?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000326139 DNA SEQ - - ALPL 1 Johan den Dunnen