Variant #0001043092 (NC_000019.9:g.49674985C>T, NM_017636.3:c.1009C>T (TRPM4))

Chromosome 19
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.49674985C>T
DNA change (hg38) -
Published as TRPM4(NM_017636.4):c.1009C>T (p.(Arg337Cys))
ISCN -
DB-ID TRPM4_000156
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00014 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2025-05-05 21:14:00 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TRPM4 NM_017636.3 ?/. - c.1009C>T r.(?) p.(Arg337Cys)


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