Variant #0000708887 (NC_000001.10:g.(21836011_21880470)del(3000), ALPL(NM_000478.4):c.(-105+1_-104-1)del(3000))

Individual ID 00324551
Chromosome 1
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.(21836011_21880470)del(3000)
DNA change (hg38) g.(21509518_21553977)del(3000)
Published as 3kb del IVS1, g.(15599_18599)del
ISCN -
DB-ID ALPL_000431
Variant remarks compound heterozygote, copied from {DB:ALPL}, Versailles lab Oct. 2016
Reference -
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 ?/. 1i c.(-105+1_-104-1)del(3000) r.? p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000325743 DNA SEQ - - ALPL 2 Johan den Dunnen