Variant #0000065282 (NC_000009.11:g.(71650816_71656086)[ins?], NC_000009.11(NM_000144.4):c.(118_166-5215)insN[?] (FXN))

Individual ID 00037740
Chromosome 9
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(71650816_71656086)[ins?]
DNA change (hg38) -
Published as expanded allele
ISCN -
DB-ID FXN_000000 See all 14 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Nazli Basak
Database submission license No license selected
Created by Nazli Basak
Date created 2012-07-06 16:06:55 +02:00 (CEST)
Date last edited 2021-12-15 21:29:39 +01:00 (CET)




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
FXN NM_000144.4 +/. 1i c.(118_166-5215)insN[?] GA[(?)] r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000037972 DNA SEQ - - FXN 2 Nazli Basak


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