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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