Variant #0000708880 (NC_000001.10:g.(?_21880470)_(21890710_21894596)del, ALPL(NM_000478.4):c.(?_-104-1)_(648+1_649-1del)

Individual ID 00324547
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_21880470)_(21890710_21894596)del
DNA change (hg38) g.(?_21553977)_(21564217_21568103)del
Published as dup ex2-6 (ex1 not tested)
ISCN -
DB-ID ALPL_000428
Variant remarks -
Reference PubMed: Hacihamdioglu 2018
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
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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_6i c.(?_-104-1)_(648+1_649-1del r.? p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000325739 DNA PCRq;SEQ - - ALPL 1 Johan den Dunnen