Variant #0000708890 (NC_000001.10:g.(?_21835858)_(21836011_21880470)del, ALPL(NM_000478.4):c.-257_(-105+1_-104-1){0})

Individual ID 00324552
Chromosome 1
Allele Both (homozygous)
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.(?_21835858)_(21836011_21880470)del
DNA change (hg38) g.(?_21509365)_(21509518_21553977)del
Published as del ex1
ISCN -
DB-ID ALPL_000432
Variant remarks copied from {DB:ALPL}, Versailles lab July 2012
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     
ALPL NM_000478.4 +/. _1_1i c.-257_(-105+1_-104-1){0} r.0? p.0? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000325744 DNA SEQ - - ALPL 1 Johan den Dunnen