Variant #0000441432 (NC_000014.8:g.76432050G>C, NC_000014.8(NM_003239.2):c.647-12C>G (TGFB3))
| Chromosome |
14 |
| Allele |
Unknown |
| Affects function (as reported) |
Does not affect function |
| Affects function (by curator) |
Does not affect function |
| Classification method |
- |
| Clinical classification |
benign |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.76432050G>C |
| DNA change (hg38) |
g.75965707G>C |
| Published as |
- |
| ISCN |
- |
| DB-ID |
TGFB3_000014 See all 2 reported entries |
| Variant remarks |
- |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
rs61762490 |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
0.00092 View details |
| Owner |
Paul van der Zwaag |
| Database submission license |
No license selected |
| Created by |
Paul van der Zwaag |
| Date created |
2009-02-25 10:18:19 +01:00 (CET) |
| Date last edited |
2009-06-17 15:08:38 +02:00 (CEST) |

Variant on transcripts
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