Variant #0000708878 (NC_000001.10:g.(21880636_21887118)_(21889603_21889777)del, ALPL(NM_000478.4):c.(61+1_62-1)_(298_472)del)

Individual ID 00324546
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.(21880636_21887118)_(21889603_21889777)del
DNA change (hg38) g.(21554143_21560625)_(21563110_21563284)del
Published as del ex3-5(?), g.(44834_46878)_(51650_52773)del
ISCN -
DB-ID ALPL_000427
Variant remarks -
Reference PubMed: Spentchian 2006
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 +?/. 2i_5 c.(61+1_62-1)_(298_472)del r.? p.? 13 U/L (normal >100)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000325738 DNA SEQ - - ALPL 1 Johan den Dunnen