Full data view for gene FXN

Information The variants shown are described using the NM_000144.4 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/- 1i c.(118_166-5215)[ins3_54] GAA[(7_22)] r.(=) p.(=) Unknown - benign g.(71650816_71656086)[ins3_54] - - - FXN_000000 intronic repeat expansion in normal range PubMed: Campuzano 1996 - - Germline - - - - - DNA PCR, Southern - - Healthy/Control - PubMed: Campuzano 1996 control individuals - - - - - - - - 175 Johan den Dunnen
+/. 1i c.(118_166-5215)insN[(2250_2550)] GAA[(750_850)] r.0? p.0? Maternal (confirmed) - pathogenic (recessive) g.(71650816_71656086)insN[(2250_2550)] - - - FXN_000000 expanded allele (~2.5 kb larger) PubMed: Campuzano 1996, Journal: Campuzano 1996 - - Germline yes - - - - DNA PCR, SEQ - - FRDA - PubMed: Campuzano 1996, Journal: Campuzano 1996 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/sister M no United States Acadian, Cajun - - - - 1 Johan den Dunnen
+/. 1i c.(118_166-5215)insN[(600_2700)] GAA[(200_900)] r.0? p.0? Unknown - pathogenic (recessive) g.(71650816_71656086)insN[(600_2700)] - c.165+1340GAA(200_900) - FXN_000000 intronic repeat expansion in disease range PubMed: Campuzano 1996 - - Germline ? - - - - DNA PCR, Southern - - FRDA - PubMed: Campuzano 1996 72 unrelated patients - - - - - - - - 72 Johan den Dunnen
+/. 1i c.(118_166-5215)insN[(600_2700)] GAA[(200_900)] r.0? p.0? Unknown - pathogenic (recessive) g.(71650816_71656086)insN[(600_2700)] - - - FXN_000000 intronic repeat expansion in disease range PubMed: Campuzano 1996 - - Germline yes - - - - DNA PCR, Southern - - FRDA - PubMed: Campuzano 1996 2-generation family, 3 affecteds - - - - - - - - 3 Johan den Dunnen
+/. 1i c.(118_166-5215)insN[(600_2700)] GAA[(200_900)] r.0? p.0? Unknown - pathogenic (recessive) g.(71650816_71656086)insN[(600_2700)] - - - FXN_000000 intronic repeat expansion in disease range PubMed: Campuzano 1996 - - Germline yes - - - - DNA PCR, Southern - - FRDA - PubMed: Campuzano 1996 2-generation family, 2 affecteds - - - - - - - - 2 Johan den Dunnen
+/. 1i c.(118_166-5215)insN[(600_2700)] GAA[(200_900)] r.0? p.0? Unknown - pathogenic (recessive) g.(71650816_71656086)insN[(600_2700)] - - - FXN_000000 intronic repeat expansion in disease range PubMed: Campuzano 1996 - - Germline yes - - - - DNA SEQ - - FRDA - PubMed: Campuzano 1996 family, 2 affected sibs - - France - - - - - 2 Johan den Dunnen
+/. 1i c.(118_166-5215)insN[(600_2700)] GAA[(200_900)] r.0? p.0? Unknown - pathogenic (recessive) g.(71650816_71656086)insN[(600_2700)] - - - FXN_000000 intronic repeat expansion in disease range PubMed: Campuzano 1996 - - Germline yes - - - - DNA SEQ - - FRDA - PubMed: Campuzano 1996 family, 1 affected - - Spain - - - - - 1 Johan den Dunnen
+/. 1i c.(118_166-5215)insN[(600_2700)] GAA[(200_900)] r.0? p.0? Unknown - pathogenic (recessive) g.(71650816_71656086)insN[(600_2700)] - - - FXN_000000 intronic repeat expansion in disease range PubMed: Campuzano 1996 - - Germline yes - - - - DNA SEQ - - FRDA - PubMed: Campuzano 1996 family, 2 affected sibs - - Italy - - - - - 2 Johan den Dunnen
+/. 1i c.(118_166-5215)insN[(600_2700)] GAA[(200_900)] r.0? p.0? Unknown - pathogenic (recessive) g.(71650816_71656086)insN[(600_2700)] - - - FXN_000000 intronic repeat expansion in disease range PubMed: Campuzano 1996 - - Germline yes - - - - DNA SEQ - - FRDA - PubMed: Campuzano 1996 family, 2 affected sibs - - Italy - - - - - 2 Johan den Dunnen
+/. 1i c.(118_166-5215)insN[(600_2700)] GAA[(200_900)] r.0? p.0? Unknown - pathogenic (recessive) g.(71650816_71656086)insN[(600_2700)] - - - FXN_000000 intronic repeat expansion in disease range PubMed: Campuzano 1996 - - Germline yes - - - - DNA SEQ - - FRDA - PubMed: Campuzano 1996 family, 1 affected - - Italy - - - - - 1 Johan den Dunnen
+/. 1i c.(118_166-5215)insN[(600_2700)] GAA[(200_900)] r.0? p.0? Unknown - pathogenic (recessive) g.(71650816_71656086)insN[(600_2700)] - - - FXN_000000 intronic repeat expansion in disease range PubMed: Campuzano 1996 - - Germline ? - - - - DNA PCR, Southern - - FRDA - PubMed: Campuzano 1996 72 unrelated patients - - - - - - - - 72 Johan den Dunnen
+/. 1i c.(118_166-5215)insN[(600_2700)] GAA[(200_900)] r.0? p.0? Unknown - pathogenic (recessive) g.(71650816_71656086)insN[(600_2700)] - - - FXN_000000 intronic repeat expansion in disease range PubMed: Campuzano 1996 - - Germline yes - - - - DNA PCR, Southern - - FRDA - PubMed: Campuzano 1996 2-generation family, 3 affecteds - - - - - - - - 3 Johan den Dunnen
+/. 1i c.(118_166-5215)insN[(600_2700)] GAA[(200_900)] r.0? p.0? Unknown - pathogenic (recessive) g.(71650816_71656086)insN[(600_2700)] - - - FXN_000000 intronic repeat expansion in disease range PubMed: Campuzano 1996 - - Germline yes - - - - DNA PCR, Southern - - FRDA - PubMed: Campuzano 1996 2-generation family, 2 affecteds - - - - - - - - 2 Johan den Dunnen
+/. 1i c.(118_166-5215)insN[?] GA[(?)] r.0? p.0? Unknown - pathogenic (recessive) g.(71650816_71656086)[ins?] - expanded allele - FXN_000000 - - - - Germline yes - - - - DNA SEQ - - FRDA - - several unaffected carriers in family (both alleles) F - Turkey Turkmenistan >24y - - - 1 Nazli Basak
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