Variant #0000642850 (NC_000004.11:g.185033931_185033932del, NM_153343.3:c.886_887del (ENPP6))
Individual ID |
00285921 |
Chromosome |
4 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.185033931_185033932del |
DNA change (hg38) |
g.184112778_184112779del |
Published as |
- |
ISCN |
- |
DB-ID |
ENPP6_000001 |
Variant remarks |
- |
Reference |
PubMed: Timberlake 2018 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2020-02-09 11:26:40 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
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