Variant #0000709945 (NC_000001.10:g.21887197A>T, ALPL(NM_000478.4):c.140A>T)

Individual ID 00325316
Chromosome 1
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.21887197A>T
DNA change (hg38) g.21560704A>T
Published as Asn30Ile
ISCN -
DB-ID ALPL_000073 See all 2 reported entries
Variant remarks no variant 2nd allele
Reference PubMed: Saglam 2017
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 ?/. 3 c.140A>T r.(?) p.(Asn47Ile) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000326526 DNA SEQ - - ALPL 1 Johan den Dunnen