Variant #0000708899 (NC_000001.10:g.(21887239_21887589)del(?), ALPL(NM_000478.4):c.(181+1_182-1)del(?))

Individual ID 00324559
Chromosome 1
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(21887239_21887589)del(?)
DNA change (hg38) g.(21560746_21561096)del(?)
Published as del IVS3
ISCN -
DB-ID ALPL_000438
Variant remarks -
Reference PubMed: Whyte 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     
ALPL NM_000478.4 +?/. 3i c.(181+1_182-1)del(?) r.? p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000325751 DNA SEQ - - ALPL 1 Johan den Dunnen