Variant #0000708886 (NC_000001.10:g.(?_21835858)_(21880636_21887118)del, ALPL(NM_000478.4):c.-257_(61+1_62-1){0})

Individual ID 00324551
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.(?_21835858)_(21880636_21887118)del
DNA change (hg38) g.(?_21509365)_(21554143_21560625)del
Published as del ex1-2, g.(1-54621_1-35638)_(44833_46877)del
ISCN -
DB-ID ALPL_000430
Variant remarks compound heterozygote, copied from {DB:ALPL}, Versailles lab May 2016
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 +/. _1_2i c.-257_(61+1_62-1){0} r.0? p.0? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000325743 DNA SEQ - - ALPL 2 Johan den Dunnen