Variant #0000708898 (NC_000001.10:g.(21889603_21889777)delinsN[?], ALPL(NM_000478.4):c.(298_472)delins(?))

Individual ID 00324558
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.(21889603_21889777)delinsN[?]
DNA change (hg38) g.(21563110_21563284)delinsN[?]
Published as indel exon 5
ISCN -
DB-ID ALPL_000437
Variant remarks -
Reference PubMed: Whyte 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     
ALPL NM_000478.4 +/. 5 c.(298_472)delins(?) r.? p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000325750 DNA SEQ - - ALPL 1 Johan den Dunnen