RGD:13790180 Rat Genome Database

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Variant: RGD:13790180 -  Homo sapiens

RGD ID: 13790180
RS ID: rs1554766808
ClinVar ID: CV544924
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FKTN  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 108,397,330
GRCh38 9 105,635,049
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_434t1:c.1173-2A>G
NC_000009.12:g.105635049A>G
LRG_434:g.81920A>G
NM_001351502.2:c.777-2A>G
More... 		06/04/2018 splice acceptor variant likely pathogenic Cerebromuscular dystrophy, Fukuyama type; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4; 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
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FKTN
Accession:XM_047422967
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422996
Location:INTRON

Gene Symbol:FKTN
Accession:XM_011518374
Location:INTRON

Gene Symbol:FKTN
Accession:XM_011518369
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422990
Location:INTRON

Gene Symbol:FKTN
Accession:XM_011518368
Location:INTRON

Gene Symbol:FKTN
Accession:XM_011518373
Location:INTRON

Gene Symbol:FKTN
Accession:XM_017014462
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422979
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422970
Location:INTRON

Gene Symbol:FKTN
Accession:XM_011518379
Location:INTRON

Gene Symbol:FKTN
Accession:NM_001351497
Location:INTRON

Gene Symbol:FKTN
Accession:NM_001351499
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422976
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422978
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047423000
Location:INTRON

Gene Symbol:FKTN
Accession:NM_006731
Location:INTRON

Gene Symbol:FKTN
Accession:NM_001351496
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422974
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422992
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422984
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422972
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422969
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422994
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422968
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422986
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422975
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422987
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422977
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422983
Location:INTRON

Gene Symbol:FKTN
Accession:XM_006717014
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422991
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422993
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047423002
Location:INTRON

Gene Symbol:FKTN
Accession:XM_011518391
Location:INTRON

Gene Symbol:FKTN
Accession:XM_017014475
Location:INTRON

Gene Symbol:FKTN
Accession:NM_001351501
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422985
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047423001
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422998
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422988
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422997
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422982
Location:INTRON

Gene Symbol:FKTN
Accession:NM_001079802
Location:INTRON

Gene Symbol:FKTN
Accession:NM_001198963
Location:INTRON

Gene Symbol:FKTN
Accession:NM_001351498
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422981
Location:INTRON

Gene Symbol:FKTN
Accession:NM_001351500
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422971
Location:INTRON

Gene Symbol:FKTN
Accession:NM_001351502
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422999
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422995
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422980
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422973
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422989
Location:INTRON

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000674909 CLINVAR
dbSNP (RS) rs1554766808 CLINVAR
MedGen C0410174 CLINVAR
NCBI Gene FKTN CLINVAR
OMIM 253800 CLINVAR
  607440 CLINVAR
SNOMED CT 111502003 CLINVAR