Variant #0000813896 (NC_000015.9:g.?, NM_002420.5:c.(?_-1)_(*1_?)del) (TRPM1))

Individual ID 00385170
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.?
DNA change (hg38) g.?
Published as TRPM1;NM_002420.5;c.[2951G>A]p.[(Arg984His)]Heterozygous;(microarrayidentifieda15q13.3microdeletionreportedinthelossoftheTRPM1gene;NM_002420.5;c.(?_-1)_(*1_?)de
ISCN -
DB-ID IGF1R_000000 See all 110 reported entries
Variant remarks compound heterozygous
Reference PubMed: Jiman 2020
ClinVar ID -
dbSNP ID -
Origin Unknown
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 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2021-10-08 17:29:22 +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.(?_-1)_(*1_?)del) r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000386399 DNA SEQ-NG-I - 176 genes panel TRPM1 2 LOVD


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