Variant #0000709042 (NC_000001.10:g.21896766_21896767del, ALPL(NM_000478.4):c.-104-90_-104-899insAAAAA)

Individual ID 00324687
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.21896766_21896767del
DNA change (hg38) -
Published as g.48712insAAAAA
ISCN -
DB-ID ALPL_000445
Variant remarks -
Reference PubMed: Mentrup 2016
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 -?/. - c.-104-90_-104-899insAAAAA r.(=) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000325894 DNA;RNA RT-PCR;SEQ - - ALPL 6 Johan den Dunnen