Variant #0000873275 (NC_000015.9:g.31355205_31391649del, NC_000015.9(NM_002420.5):c.-64+2213_899+118del (TRPM1))

Individual ID 00414207
Chromosome 15
Allele Both (homozygous)
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.31355205_31391649del
DNA change (hg38) g.31063002_31099446del
Published as TRPM1 chr15: 31355203-31391647del, no functional protein
ISCN -
DB-ID MIR211_000001 See all 12 reported entries
Variant remarks homozygous
Reference PubMed: van Genderen 2009
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 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-07-27 17:19:04 +02:00 (CEST)
Date last edited 2024-01-24 19:23:08 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TRPM1 NM_001252020.1 +?/. - c.55-22462_1016+116del r.(?) p.(Gly19Asnfs*4)
TRPM1 NM_001252024.1 +?/. - c.-84+2211_965+116del r.? p.?
TRPM1 NM_002420.5 +?/. _2_7_ c.-64+2213_899+118del r.0 p.0
MIR211 NR_029624.1 +?/. - n.-34305_*2030del - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000415487 DNA SEQ blood - TRPM1 1 LOVD


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.