Variant #0000714075 (NC_000015.9:g.(?_31293264)_(31393929_?)del, NM_002420.5:c.-133_*761{0} (TRPM1))
| Individual ID |
00328503 |
| Chromosome |
15 |
| Allele |
Parent #2 |
| Affects function (as reported) |
Probably affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
likely pathogenic (recessive) |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.(?_31293264)_(31393929_?)del |
| DNA change (hg38) |
g.(?_31001061)_(31101726_?)del |
| Published as |
15q13.3 microdeletion encompassing TRPM1 |
| ISCN |
- |
| DB-ID |
TRPM1_000116 |
| Variant remarks |
- |
| Reference |
PubMed: Taylor 2017 |
| 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-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2021-01-28 09:35:56 +01:00 (CET) |
| Date last edited |
N/A |

Variant on transcripts
Screenings
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