Variant #0000128949 (NC_000015.9:g.89379443_89379450del, NM_013227.3:c.6_13del (ACAN))
| Individual ID |
00079994 |
| Chromosome |
15 |
| Allele |
Paternal (confirmed) |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.89379443_89379450del |
| DNA change (hg38) |
g.88836212_88836219del |
| Published as |
6_13delCACTTTAC (T3fsX21) |
| ISCN |
- |
| DB-ID |
ACAN_000001 |
| Variant remarks |
- |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
yes |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Xuyun Hu |
| Database submission license |
No license selected |
| Created by |
Xuyun Hu |
| Date created |
2016-08-31 14:00:40 +02:00 (CEST) |
| Date last edited |
2016-08-31 15:20:33 +02:00 (CEST) |

Variant on transcripts
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