Variant #0000646096 (NC_000001.10:g.21880603T>C, ALPL(NM_000478.4):p.(Ile10Thr))

Individual ID 00324691
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.21880603T>C
DNA change (hg38) g.21554110T>C
Published as -
ISCN -
DB-ID ALPL_000052 See all 3 reported entries
Variant remarks -
Reference Versailles lab June 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
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 ?/. 2 p.(Ile10Thr) r.(?) p.(Ile10Thr) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000325898 DNA SEQ - - ALPL 1 Johan den Dunnen