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
Screenings
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