Variant #0000714052 (NC_000015.9:g.31360213A>G, NM_002420.5:c.296T>C (TRPM1))

Individual ID 00328480
Chromosome 15
Allele Parent #2
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.31360213A>G
DNA change (hg38) g.31068010A>G
Published as -
ISCN -
DB-ID TRPM1_000129 See all 11 reported entries
Variant remarks -
Reference PubMed: Taylor 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00011 View details
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-01-28 09:35:56 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TRPM1 NM_002420.5 +?/. - c.296T>C r.(?) p.(Leu99Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000329695 DNA SEQ-NG - gene panel TRPM1 2 LOVD


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