Variant #0000434696 (NC_000019.9:g.49661142G>A, NM_017636.3:c.19G>A (TRPM4))

Individual ID 00204304
Chromosome 19
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.49661142G>A
DNA change (hg38) g.49157885G>A
Published as -
ISCN -
DB-ID TRPM4_000001 See all 2 reported entries
Variant remarks not in 460 Afrikaner control chromosomes, not in 778 European control chromosomes; variant from founder Portugal
Reference PubMed: Kruse et al 2009, OMIM:var0001
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site MboII+
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 Gerard C.P. Schaafsma
Date created 2011-05-26 23:08:43 +02:00 (CEST)
Date last edited 2011-08-26 16:13:50 +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 +/? 1 c.19G>A r.(?) p.(Glu7Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000205332 DNA SEQ - - TRPM4 1 LOVD


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