Variant #0000708893 (NC_000001.10:g.(21903135_21903875)_(21904905_?)del, ALPL(NM_000478.4):c.(1309+1_1310-1)_*764{0})

Individual ID 00324554
Chromosome 1
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(21903135_21903875)_(21904905_?)del
DNA change (hg38) g.(21576642_21577382)_(21578412_?)del
Published as del ex12 (3' end)
ISCN -
DB-ID ALPL_000434 See all 2 reported entries
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     
ALPL NM_000478.4 +?/. 11i_12_ c.(1309+1_1310-1)_*764{0} r.? p.? 36 U/L parent



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000325746 DNA SEQ - - ALPL 2 Johan den Dunnen