Variant #0000567971 (NC_000019.9:g.49675039_49675042dup, NC_000019.9(NM_017636.3):c.1050+13_1050+16dup (TRPM4))

Chromosome 19
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.49675039_49675042dup
DNA change (hg38) g.49171782_49171785dup
Published as TRPM4(NM_017636.4):c.1050+13_1050+16dupGGGC
ISCN -
DB-ID TRPM4_000086 See all 2 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) Retrieve
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 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     
TRPM4 NM_017636.3 -/. - c.1050+13_1050+16dup r.(=) p.(=)


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