RGD:9691345 Rat Genome Database

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Variant: RGD:9691345 -  Homo sapiens

RGD ID: 9691345
RS ID: rs188804693
ClinVar ID: CV172234
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FKTN  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 108,337,237
GRCh38 9 105,574,956
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006731.2:c.-77A>G
NG_008754.1:g.21827A>G
NC_000009.12:g.105574956A>G
NC_000009.11:g.108337237A>G
More... 		01/13/2018 5 prime utr variant benign|uncertain significance AllHighlyPenetrant; CARDIOMYOPATHY, DILATED, WITH MILD OR NO PROXIMAL MUSCLE WEAKNESS; Cerebromuscular dystrophy, Fukuyama type; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4; FKTN-Related Dilated Cardiomyopathy; Fukuyama congenital muscular dystrophy; Fukuyama type muscular dystrophy; Muscular dystrophy, congenital progressive, with mental retardation; Muscular dystrophy, congenital, with central nervous system involvement; WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED; Walker-Warburg syndrome, FKTN-related

Variant Details
Variant Transcripts
Gene Symbol:FKTN
Accession:XM_047422992
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:NM_001351498
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422998
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422993
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422994
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_011518374
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:NM_001351500
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047423001
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422997
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:NM_001351502
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422972
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422970
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422988
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047423002
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422968
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_006717014
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:NM_001351497
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422969
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422976
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422978
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422973
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:NM_001079802
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_011518391
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422990
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422980
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422975
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422984
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422991
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422995
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_017014462
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422986
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422999
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047423000
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_011518369
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422987
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:NM_001198963
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_011518373
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:NM_001351499
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:NM_001351496
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422985
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422977
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422967
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422989
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:NM_006731
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_017014475
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422971
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_011518368
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:NM_001351501
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422979
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422974
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422996
Location:5UTRS;EXON

Gene Symbol:FKTN
Accession:NR_147214
Location:EXON;NON-CODING

Gene Symbol:FKTN
Accession:NR_147213
Location:EXON;NON-CODING

Gene Symbol:FKTN
Accession:XM_047422983
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422982
Location:INTRON

Gene Symbol:FKTN
Accession:XM_011518379
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422981
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000149970 CLINVAR
  RCV001169642 CLINVAR
  RCV001169643 CLINVAR
dbSNP (RS) rs188804693 CLINVAR
MedGen C0410174 CLINVAR
  C1969024 CLINVAR
  CN169374 CLINVAR
NCBI Gene FKTN CLINVAR
OMIM 253800 CLINVAR
  607440 CLINVAR
  611615 CLINVAR
SNOMED CT 111502003 CLINVAR