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 InternationalCreative Commons License
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)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TRPM1 NM_001252020.1 +?/. - c.91C>T r.(?) p.(Arg31Trp)
TRPM1 NM_001252024.1 +?/. - c.40C>T r.(?) p.(Arg14Trp)
TRPM1 NM_002420.5 +?/. 2 c.1-27C>T r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000415550 DNA SEQ blood - TRPM1 1 LOVD


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