Variant #0000065101 (NC_000004.11:g.D4Z4[9], NM_033178.2:c.(?_-1)_(*?_?)[9] (DUX4))

Individual ID 00037656
Chromosome 4
Allele Parent #1
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.D4Z4[9]
DNA change (hg38) -
Published as D4Z4-9
ISCN -
DB-ID DUX4_000009 See all 4 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Richard Lemmers
Database submission license No license selected
Created by Richard Lemmers
Date created 2015-02-03 17:00:25 +01:00 (CET)
Date last edited 2015-02-03 17:00:25 +01:00 (CET)




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
DUX4 NM_033178.2 +?/. _1_2i c.(?_-1)_(*?_?)[9] D4Z4-9 r.= p.=



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000037888 DNA PCRdig;PFGE;Southern - - DUX4 3 Richard Lemmers


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