Variant #0000976095 (NC_000004.11:g.122737559_122737561del, NM_001034194.1:c.1243_1245del (EXOSC9))

Chromosome 4
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.122737559_122737561del
DNA change (hg38) -
Published as EXOSC9(NM_005033.3):c.1192_1194del (p.(Glu398del))
ISCN -
DB-ID CCNA2_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_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2024-04-19 20:27:30 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EXOSC9 NM_001034194.1 ?/. - c.1243_1245del r.(?) p.(Glu415del)
CCNA2 NM_001237.3 ?/. - c.*1241_*1243del r.(=) p.(=)


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