Variant #0000218381 (NC_000019.9:g.49684650_49684657del, NM_017636.3:c.1195_1202del (TRPM4))
| Individual ID |
00128401 |
| Chromosome |
19 |
| Allele |
Unknown |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.49684650_49684657del |
| DNA change (hg38) |
g.49181393_49181400del |
| Published as |
- |
| ISCN |
- |
| DB-ID |
TRPM4_000020 |
| Variant remarks |
- |
| Reference |
PubMed: Sahlin 2019, Journal: Sahlin 2019 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
? |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Ellika Sahlin |
| Database submission license |
No license selected |
| Created by |
Ellika Sahlin |
| Date created |
2017-09-15 15:44:31 +02:00 (CEST) |
| Date last edited |
2019-06-06 15:50:12 +02:00 (CEST) |

Variant on transcripts
Screenings
|