Variant #0000873777 (NC_000015.9:g.31355205_31391649del, NC_000015.9(NM_002420.5):c.-64+2213_899+118del (TRPM1))
Individual ID |
00414592 |
Chromosome |
15 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.31355205_31391649del |
DNA change (hg38) |
g.31063002_31099446del |
Published as |
TRPM1 chr15: 31355203- 31391647del |
ISCN |
- |
DB-ID |
MIR211_000001 See all 12 reported entries |
Variant remarks |
homozygous |
Reference |
PubMed: AlTalbishi 2019 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |
Date created |
2022-07-29 12:13:59 +02:00 (CEST) |
Date last edited |
2022-07-29 12:16:38 +02:00 (CEST) |

Variant on transcripts
Screenings
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