Unique variants in gene FXN

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

27 entries on 1 page. Showing entries 1 - 27.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

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     

Owner     
-/., -?/. 2 - c.-7G>A - r.(?) p.(=) - benign, likely benign g.71650692G>A g.69035776G>A FXN(NM_000144.4):c.-7G>A - FXN_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam
+/. 1 1i c.(118_166-5215)ins(2250_2550) GAA[(750_850)] r.0? p.0? - pathogenic (recessive) g.(71650816_71656086)[ins(2250_2550)] - - - FXN_000000 expanded allele (~2.5 kb larger) PubMed: Campuzano 1996, Journal: Campuzano 1996 - - Germline yes - - - - Johan den Dunnen
+/. 1 1i c.(118_166-5215)ins(?) GA[(?)] r.0? p.0? - pathogenic (recessive) g.(71650816_71656086)[ins?] - expanded allele - FXN_000000 - - - - Germline yes - - - - Nazli Basak
-/- 1 1i c.(118_166-5215)[ins3_54] GAA[(7_22)] r.(=) p.(=) - benign g.(71650816_71656086)[ins3_54] - - - FXN_000000 intronic repeat expansion in normal range PubMed: Campuzano 1996 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.2T>C - r.(?) p.(Met1?) - pathogenic g.71650700T>C g.69035784T>C - - FXN_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 - c.3G>T - r.(?) p.(Met1?) - pathogenic g.71650701G>T g.69035785G>T FXN(NM_181425.3):c.3G>T (p.M1?) - FXN_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc
-/. 3 - c.54A>G - r.(?) p.(Pro18=) - benign g.71650752A>G g.69035836A>G FXN(NM_000144.4):c.54A>G (p.P18=), FXN(NM_181425.2):c.54A>G (p.P18=) - FXN_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_Groningen
-?/. 1 - c.55G>C - r.(?) p.(Ala19Pro) - likely benign g.71650753G>C g.69035837G>C FXN(NM_000144.4):c.55G>C (p.A19P) - FXN_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.118C>T - r.(?) p.(Arg40Cys) - VUS g.71650816C>T g.69035900C>T FXN(NM_181425.2):c.118C>T (p.R40C) - FXN_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 1 c.130_154dup - r.(?) p.(Pro52Hisfs*49) - pathogenic (recessive) g.71650828_71650852dup g.69035912_69035936dup 153_178insCACCGACATCGATGCGACCTGCACG - FXN_000006 - - - - Germline yes - - - - Nazli Basak
-?/. 1 - c.131C>A - r.(?) p.(Thr44Asn) - likely benign g.71650829C>A g.69035913C>A FXN(NM_181425.2):c.131C>A (p.T44N) - FXN_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 11 1i c.(118_166-5215)ins(600_2700) GAA[(200_900)] r.0? p.0? - pathogenic (recessive) g.(71650816_71656086)[ins(600_2700)] - c.165+1340GAA(200_900) - FXN_000000 intronic repeat expansion in disease range PubMed: Campuzano 1996 - - Germline yes, ? - - - - Johan den Dunnen
-/. 1 - c.165+1530_165+1535del - r.(=) p.(=) - benign g.71652393_71652398del g.69037477_69037482del FXN(NM_000144.4):c.165+1530_165+1535delTAATAA - FXN_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.179G>A - r.(?) p.(Arg60His) - VUS g.71661314G>A g.69046398G>A - - FXN_000025 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs141858334 Germline - 1/2795 individuals - - - Mohammed Faruq
-/. 1 - c.226A>G - r.(?) p.(Met76Val) - benign g.71661361A>G g.69046445A>G FXN(NM_181425.2):c.226A>G (p.M76V) - FXN_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.251del - r.(?) p.(Leu84TrpfsTer7) - pathogenic g.71661386del g.69046470del FXN(NM_000144.4):c.251delT (p.L84Wfs*7) - FXN_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.285T>A - r.(?) p.(Tyr95Ter) - pathogenic g.71668077T>A g.69053161T>A - - FXN_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.316_317del - r.(?) p.(Leu106SerfsTer5) - pathogenic g.71668108_71668109del g.69053192_69053193del FXN(NM_000144.4):c.316_317delTT (p.L106Sfs*5) - FXN_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 3 c.317T>G - r.(?) p.(Leu106*) - pathogenic (recessive) g.71668109T>G g.69053193T>G TTA>TGA (Leu106X) - FXN_000003 - PubMed: Campuzano 1996, Journal: Campuzano 1996, OMIM:var0002, PubMed: Campuzano 1996 - rs104894105 Germline yes - - - - Johan den Dunnen
-/. 1 - c.384+21T>C - r.(=) p.(=) - benign g.71668197T>C g.69053281T>C FXN(NM_000144.4):c.384+21T>C - FXN_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 3i c.385-2A>G - r.spl p.? - pathogenic (recessive) g.71679852A>G g.69064936A>G - - FXN_000004 - PubMed: Campuzano 1996 - - Germline yes - - - - Johan den Dunnen
+/. 2 - c.389G>T - r.(?) p.(Gly130Val) - pathogenic g.71679858G>T g.69064942G>T FXN(NM_000144.4):c.389G>T (p.G130V) - FXN_000017 2 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland Faruq 2020, submtted - rs104894107 Germline, CLASSIFICATION record - 2/2795 individuals - - - Mohammed Faruq, VKGL-NL_Rotterdam
+/. 1 - c.429T>A - r.(?) p.(Tyr143Ter) - pathogenic g.71679898T>A g.69064982T>A - - FXN_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.443del - r.(?) p.(Gln148ArgfsTer47) - pathogenic g.71679912del g.69064996del FXN(NM_000144.4):c.443delA (p.Q148Rfs*47) - FXN_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 4 4 c.460A>T - r.(?) p.(Ile154Phe) - pathogenic (recessive) g.71679929A>T g.69065013A>T - - FXN_000005 - PubMed: Campuzano 1996 - - Germline yes 1/417 control chromosomes - - - Johan den Dunnen
-?/. 1 - c.618C>A - r.(?) p.(Ser206=) - likely benign g.71687663C>A g.69072747C>A FXN(NM_000144.4):c.618C>A (p.S206=) - FXN_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*27164C>T - r.(=) p.(=) - likely benign g.71714842C>T g.69099926C>T FXN(NM_181425.2):NULL - FXN_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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