Variant #0000873349 (NC_000015.9:g.31369151G>A, NC_000015.9(NM_002420.5):c.1-27C>T (TRPM1))
Individual ID |
00414270 |
Chromosome |
15 |
Allele |
Both (homozygous) |
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.31369151G>A |
DNA change (hg38) |
g.31076948G>A |
Published as |
TRPM1 c.1-27C>T (70+TRPM1), 50 UTR expression defect |
ISCN |
- |
DB-ID |
TRPM1_000136 See all 3 reported entries |
Variant remarks |
different transcript - NM_001252024.1(TRPM1):c.40C>T, p.(Arg14Trp); homozygous; not certain which transcript makes it causative |
Reference |
PubMed: Audo 2009 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
? |
Frequency |
0/348 control alleles |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
2.0E-5 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |
Date created |
2022-07-28 11:52:58 +02:00 (CEST) |
Date last edited |
2022-07-28 11:53:06 +02:00 (CEST) |

Variant on transcripts
Screenings
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