Variant #0000765856 (NC_000015.9:g.31369122_31369123inv, NM_002420.5:c.2_3inv (TRPM1))
Individual ID |
00363686 |
Chromosome |
15 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.31369122_31369123inv |
DNA change (hg38) |
g.31076919_31076920inv |
Published as |
- |
ISCN |
- |
DB-ID |
TRPM1_000142 |
Variant remarks |
- |
Reference |
PubMed: Patel 2016 |
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 |
2021-04-29 16:11:05 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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