Variant #0000765856 (NC_000015.9:g.31369122_31369123inv, NM_002420.5:c.2_3inv (TRPM1))

Individual ID 00363686
Chromosome 15
Allele Unknown
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.31369122_31369123inv
DNA change (hg38) g.31076919_31076920inv
Published as -
ISCN -
DB-ID TRPM1_000142
Variant remarks -
Reference PubMed: Patel 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-04-29 16:11:05 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TRPM1 NM_002420.5 +?/. - c.2_3inv r.(?) p.(Met1?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000364914 DNA SEQ-NG - gene panel TRPM1 1 LOVD


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