Variant #0000434696 (NC_000019.9:g.49661142G>A, NM_017636.3:c.19G>A (TRPM4))
| Individual ID |
00204304 |
| Chromosome |
19 |
| Allele |
Parent #1 |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Effect unknown |
| Classification method |
- |
| Clinical classification |
pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.49661142G>A |
| DNA change (hg38) |
g.49157885G>A |
| Published as |
- |
| ISCN |
- |
| DB-ID |
TRPM4_000001 See all 2 reported entries |
| Variant remarks |
not in 460 Afrikaner control chromosomes, not in 778 European control chromosomes; variant from founder Portugal |
| Reference |
PubMed: Kruse et al 2009, OMIM:var0001 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
MboII+ |
| 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 |
Gerard C.P. Schaafsma |
| Date created |
2011-05-26 23:08:43 +02:00 (CEST) |
| Date last edited |
2011-08-26 16:13:50 +02:00 (CEST) |

Variant on transcripts
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