Variant #0000242720 (NC_000022.10:g.46191280_46191304del, NC_000022.10(NM_013236.3):c.1174-11559_1174-11535del (ATXN10))

Individual ID 00148520
Chromosome 22
Allele Parent #1
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.46191280_46191304del
DNA change (hg38) g.45795400_45795424del
Published as -
ISCN -
DB-ID ATXN10_000006
Variant remarks -
Reference PubMed: Matsuura 2000
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/254 chromosomes
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 2018-01-05 10:05:07 +01:00 (CET)
Date last edited 2018-01-05 10:12:32 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
ATXN10 NM_013236.3 -/. 9i c.1174-11559_1174-11535del ATTCT[10] r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000149376 DNA PCR;SEQ - - ATXN10 1 Johan den Dunnen


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