Variant #0000567958 (NC_000019.9:g.49657603G>A, NM_017636.3:c.-3521G>A (TRPM4))
| Chromosome |
19 |
| Allele |
Unknown |
| Affects function (as reported) |
Effect unknown |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
VUS |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.49657603G>A |
| DNA change (hg38) |
g.49154346G>A |
| Published as |
HRC(NM_002152.2):c.892C>T (p.(Arg298Ter)) |
| ISCN |
- |
| DB-ID |
HRC_000017 |
| Variant remarks |
VKGL data sharing initiative Nederland |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
CLASSIFICATION record |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
5.0E-5 View details |
| Owner |
VKGL-NL_Leiden |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
VKGL-NL_Leiden |
| Date created |
2019-07-18 18:22:55 +02:00 (CEST) |
| Date last edited |
2022-11-01 13:01:21 +01:00 (CET) |

Variant on transcripts
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