Variant #0000218381 (NC_000019.9:g.49684650_49684657del, NM_017636.3:c.1195_1202del (TRPM4))

Individual ID 00128401
Chromosome 19
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.49684650_49684657del
DNA change (hg38) g.49181393_49181400del
Published as -
ISCN -
DB-ID TRPM4_000020
Variant remarks -
Reference PubMed: Sahlin 2019, Journal: Sahlin 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Ellika Sahlin
Database submission license No license selected
Created by Ellika Sahlin
Date created 2017-09-15 15:44:31 +02:00 (CEST)
Date last edited 2019-06-06 15:50:12 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TRPM4 NM_017636.3 +/. - c.1195_1202del r.(?) p.(Leu399Glyfs*11)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000129239 DNA SEQ-NG - HaloPlex gene panel (70 heart genes) - 2 Ellika Sahlin


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