Variant #0000708896 (NC_000001.10:g.(21836011_21880470)_(21890710_21894596)del, ALPL(NM_000478.4):c.(-105+1_-104-1)_(648+1_649-1)del)

Individual ID 00324556
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.(21836011_21880470)_(21890710_21894596)del
DNA change (hg38) g.(21509518_21553977)_(21564217_21568103)del
Published as del ex2-6
ISCN -
DB-ID ALPL_000435
Variant remarks copied from {DB:ALPL}, I Rau, Hamburg, Germany
Reference -
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 +/. 1i_6i c.(-105+1_-104-1)_(648+1_649-1)del r.? p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000325748 DNA SEQ - - ALPL 1 Johan den Dunnen