Variant #0000818927 (NC_000015.9:g.(?_31294020)_(31369129_?)del, NM_002420.5:c.(?_-63-1)_*761{0} (TRPM1))

Individual ID 00388470
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.(?_31294020)_(31369129_?)del
DNA change (hg38) -
Published as c.(?_?1)_(*1_?)del
ISCN -
DB-ID TRPM1_000175
Variant remarks -
Reference PubMed: Ellingsford 2018
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 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2021-11-04 08:27:28 +01:00 (CET)
Date last edited 2021-12-16 12:06:35 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TRPM1 NM_002420.5 +?/. _2_27_ c.(?_-63-1)_*761{0} r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000389711 DNA SEQ-NG - CNV gene panel next-generation sequencing TRPM1 2 LOVD


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