Variant #0000117059 (NC_000009.11:g.135221695_135221697del, NM_015046.5:c.343_345del (SETX))

Individual ID 00073228
Chromosome 9
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.135221695_135221697del
DNA change (hg38) g.132346308_132346310del
Published as 340delCTT
ISCN -
DB-ID SETX_000001
Variant remarks -
Reference PubMed: Airoldi 2010, OMIM:var0014
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 2010-06-18 15:36:19 +02:00 (CEST)
Date last edited 2020-06-26 10:43:11 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SETX NM_015046.5 +/. 4 c.343_345del r.(?) p.(Leu115del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073387 DNA SEQ - - SETX 1 Johan den Dunnen


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