Variant #0000673564 (NC_000001.10:g.21880592del, ALPL(NM_000478.4):c.18del)
Individual ID |
00305896 |
Chromosome |
1 |
Allele |
Parent #2 |
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.21880592del |
DNA change (hg38) |
g.21554099del |
Published as |
18delA |
ISCN |
- |
DB-ID |
ALPL_000424 |
Variant remarks |
- |
Reference |
- |
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 |
Sha Hong |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Sha Hong |

Variant on transcripts
Screenings
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