Variant #0000646121 (NC_000001.10:g.21887235G>C, ALPL(NM_000478.4):c.178G>C)

Individual ID 00324745
Chromosome 1
Allele Unknown
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.21887235G>C
DNA change (hg38) g.21560742G>C
Published as Asp43His
ISCN -
DB-ID ALPL_000076
Variant remarks -
Reference PubMed: McKiernan 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.178G>C r.(?) p.(Asp60His) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000325952 DNA SEQ - - ALPL 1 Johan den Dunnen