Variant #0000788238 (NC_000015.9:g.?, NM_002420.5:c.? (TRPM1))

Individual ID 00375406
Chromosome 15
Allele Parent #1
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.?
DNA change (hg38) -
Published as chr15: 31355203-31391647del
ISCN -
DB-ID IGF1R_000000 See all 110 reported entries
Variant remarks no genotype reported
Reference PubMed: Zeitz 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-06-03 10:21:34 +02:00 (CEST)
Date last edited N/A




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TRPM1 NM_002420.5 +?/. - c.? r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000376603 DNA SEQ - - TRPM1 1 LOVD


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