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
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