Variant #0000406011 (NC_000007.13:g.40498796C>T, NM_001193313.1:c.1006C>T (C7orf10))
| Individual ID |
00181170 |
| Chromosome |
7 |
| Allele |
Paternal (confirmed) |
| Affects function (as reported) |
Does not affect function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
benign |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.40498796C>T |
| DNA change (hg38) |
g.40459197C>T |
| Published as |
- |
| ISCN |
- |
| DB-ID |
C7orf10_000003 See all 2 reported entries |
| Variant remarks |
- |
| Reference |
PubMed: Papuc 2019 |
| ClinVar ID |
- |
| dbSNP ID |
rs137852860 |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
0.00466 View details |
| Owner |
Anaïs Begemann |
| Database submission license |
No license selected |
| Created by |
Anaïs Begemann |
| Date created |
2018-10-03 11:51:59 +02:00 (CEST) |
| Date last edited |
2021-12-27 21:41:53 +01:00 (CET) |

Variant on transcripts
Screenings
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