Variant #0000553937 (NC_000015.9:g.31362087A>C, NC_000015.9(NM_002420.5):c.213+147T>G (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.31362087A>C
DNA change (hg38) g.31069884A>C
Published as TRPM1(NM_001252030.2):c.360T>G (p.Y120*)
ISCN -
DB-ID TRPM1_000092
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 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2022-05-09 15:24:52 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TRPM1 NM_001252020.1 ?/. - c.330+147T>G r.(=) p.(=)
TRPM1 NM_001252024.1 ?/. - c.279+147T>G r.(=) p.(=)
TRPM1 NM_002420.5 ?/. - c.213+147T>G r.(=) p.(=)


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