Variant #0000615224 (NC_000015.9:g.31359348G>A, NM_002420.5:c.470C>T (TRPM1))

Chromosome 15
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.31359348G>A
DNA change (hg38) g.31067145G>A
Published as TRPM1(NM_001252020.1):c.587C>T (p.S196F), TRPM1(NM_001252020.2):c.587C>T (p.S196F)
ISCN -
DB-ID TRPM1_000090 See all 7 reported entries
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) 0.0032 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2019-12-04 15:24:38 +01:00 (CET)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TRPM1 NM_001252020.1 ?/. - c.587C>T r.(?) p.(Ser196Phe)
TRPM1 NM_001252024.1 ?/. - c.536C>T r.(?) p.(Ser179Phe)
TRPM1 NM_002420.5 ?/. - c.470C>T r.(?) p.(Ser157Phe)


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