Variant #0000915272 (NC_000019.9:g.49657751_49657753del, NM_017636.3:c.-3373_-3371del (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.49657751_49657753del
DNA change (hg38) -
Published as HRC(NM_002152.2):c.779_781del (p.(Asp261del)), HRC(NM_002152.3):c.782_784delATG (p.D261del)
ISCN -
DB-ID HRC_000006
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_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2023-01-11 15:44:22 +01:00 (CET)
Date last edited 2024-02-26 20:06:56 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HRC NM_002152.2 -/. - c.782_784del r.(?) p.(Asp261del)
PPFIA3 NM_003660.2 -/. - c.*4272_*4274del r.(=) p.(=)
TRPM4 NM_017636.3 -/. - c.-3373_-3371del r.(?) p.(=)


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.