Variant #0000128950 (NC_000015.9:g.89385002del, NM_013227.3:c.661del (ACAN))
Individual ID |
00079995 |
Chromosome |
15 |
Allele |
Maternal (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.89385002del |
DNA change (hg38) |
g.88841771del |
Published as |
661delT (Y221fsX10) |
ISCN |
- |
DB-ID |
ACAN_000002 |
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 14:15:56 +02:00 (CEST) |
Date last edited |
2016-08-31 15:22:19 +02:00 (CEST) |

Variant on transcripts
Screenings
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