Variant #0000714075 (NC_000015.9:g.(?_31293264)_(31393929_?)del, NM_002420.5:c.-133_*761{0} (TRPM1))

Individual ID 00328503
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.(?_31293264)_(31393929_?)del
DNA change (hg38) g.(?_31001061)_(31101726_?)del
Published as 15q13.3 microdeletion encompassing TRPM1
ISCN -
DB-ID TRPM1_000116
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) Retrieve
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TRPM1 NM_002420.5 +?/. - c.-133_*761{0} r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000329718 DNA SEQ-NG - gene panel TRPM1 2 LOVD


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