Variant #0000708883 (NC_000001.10:g.(21836011_21880470)_(21880636_21887118)del, ALPL(NM_000478.4):c.(-105+1_-104-1)_(61+1_62-1)del)

Individual ID 00324549
Chromosome 1
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(21836011_21880470)_(21880636_21887118)del
DNA change (hg38) g.(21509518_21553977)_(21554143_21560625)del
Published as del ex2
ISCN -
DB-ID ALPL_000429 See all 3 reported entries
Variant remarks -
Reference copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, H Mateus, Alexion Pharmaceuticals (USA)
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 +?/. _1i_2i c.(-105+1_-104-1)_(61+1_62-1)del r.? p.0? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000325741 DNA SEQ - - ALPL 2 Johan den Dunnen