Variant #0000553937 (NC_000015.9:g.31362087A>C, NC_000015.9(NM_002420.5):c.213+147T>G (TRPM1))
Chromosome |
15 |
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.31362087A>C |
DNA change (hg38) |
g.31069884A>C |
Published as |
TRPM1(NM_001252030.2):c.360T>G (p.Y120*) |
ISCN |
- |
DB-ID |
TRPM1_000092 |
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) |
0 View details |
Owner |
VKGL-NL_AMC |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_AMC |
Date created |
2019-07-18 18:22:55 +02:00 (CEST) |
Date last edited |
2022-05-09 15:24:52 +02:00 (CEST) |

Variant on transcripts
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