Variant #0000089450 (NC_000023.10:g.70289817_70289821del, NM_013346.3:c.-1658_-1654del (SNX12))
| Individual ID |
00058821 |
| Chromosome |
X |
| Allele |
Maternal (confirmed) |
| Affects function (as reported) |
Probably does not affect function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
likely benign |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.70289817_70289821del |
| DNA change (hg38) |
g.71069967_71069971del |
| Published as |
delGAAAA |
| ISCN |
- |
| DB-ID |
SNX12_000002 |
| Variant remarks |
- |
| Reference |
PubMed: Kumar 2016, Journal: Kumar 2016 |
| ClinVar ID |
- |
| dbSNP ID |
rs201834417 |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Thuong Ha |
| Database submission license |
No license selected |
| Created by |
Thuong Ha |
| Date created |
2016-02-05 05:59:11 +01:00 (CET) |
| Date last edited |
2020-07-20 14:41:21 +02:00 (CEST) |

Variant on transcripts
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