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
Screenings
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