Variant #0000434700 (NC_000019.9:g.49674854A>G, NM_017636.3:c.878A>G (TRPM4))

Individual ID 00204313
Chromosome 19
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.49674854A>G
DNA change (hg38) g.49171597A>G
Published as -
ISCN -
DB-ID TRPM4_000010
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00019 View details
Owner Birgit Stallmeyer
Database submission license No license selected
Created by Birgit Stallmeyer
Date created 2011-08-19 22:35:47 +02:00 (CEST)
Date last edited 2011-08-22 08:33:43 +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 +?/? 8 c.878A>G r.(?) p.(Gln293Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000205341 DNA SEQ - - TRPM4 1 Birgit Stallmeyer


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