Variant #0000948608 (NC_000006.11:g.107040044dup, NM_032730.4:c.804dup (RTN4IP1))

Chromosome 6
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.107040044dup
DNA change (hg38) -
Published as RTN4IP1(NM_032730.5):c.804dupA (p.P269Tfs*3)
ISCN -
DB-ID QRSL1_000016
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 2023-11-27 17:35:39 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
QRSL1 NM_018292.4 +?/. - c.-37513dup r.(?) p.(=)
RTN4IP1 NM_032730.4 +?/. - c.804dup r.(?) p.(Pro269Thrfs*3)


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