Variant #0000818927 (NC_000015.9:g.(?_31294020)_(31369129_?)del, NM_002420.5:c.(?_-63-1)_*761{0} (TRPM1))
| Individual ID |
00388470 |
| Chromosome |
15 |
| Allele |
Unknown |
| Affects function (as reported) |
Probably affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
likely pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.(?_31294020)_(31369129_?)del |
| DNA change (hg38) |
- |
| Published as |
c.(?_?1)_(*1_?)del |
| ISCN |
- |
| DB-ID |
TRPM1_000175 |
| Variant remarks |
- |
| Reference |
PubMed: Ellingsford 2018 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Julia Lopez |
| Date created |
2021-11-04 08:27:28 +01:00 (CET) |
| Date last edited |
2021-12-16 12:06:35 +01:00 (CET) |

Variant on transcripts
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