Variant #0000580257 (NC_000014.8:g.92537335_92537494insN[39], ATXN3(NM_004993.5):c.(873-97_935)insN[39])

Individual ID 00249751
Chromosome 14
Allele Parent #2
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.92537335_92537494insN[39]
DNA change (hg38) g.92070991_92071150insN[39]
Published as -
ISCN -
DB-ID ATXN3_000067 See all 3 reported entries
Variant remarks -
Reference PubMed: Kawaguchi 1994
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2019-08-02 13:31:07 +02:00 (CEST)
Date last edited 2021-12-15 21:17:37 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
ATXN3 NM_004993.5 ?/. 10 c.(873-97_935)insN[39] TRN[27] r.(?) p.(Gln292_Gln302ins13)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000250858 DNA PCR;SEQ - - ATXN3 2 Johan den Dunnen