Variant #0000567958 (NC_000019.9:g.49657603G>A, NM_017636.3:c.-3521G>A (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.49657603G>A
DNA change (hg38) g.49154346G>A
Published as HRC(NM_002152.2):c.892C>T (p.(Arg298Ter))
ISCN -
DB-ID HRC_000017
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) 5.0E-5 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 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2022-11-01 13:01:21 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HRC NM_002152.2 ?/. - c.892C>T r.(?) p.(Arg298Ter)
PPFIA3 NM_003660.2 ?/. - c.*4124G>A r.(=) p.(=)
TRPM4 NM_017636.3 ?/. - c.-3521G>A r.(?) p.(=)


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