FKRP fukutin related protein

Information
Symbol
FKRP
Type
protein-coding
Description
fukutin related protein
Entrez Gene ID
79147
Genome
hg19
Position
chr19:47,249,314-47,261,832
Genome
hg38
Position
chr19:46,746,057-46,758,575
MIM
606596 OMIM
HGNC
HGNC:17997 HGNC
Ensembl
ENSG00000181027 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 6 216
Likely pathogenic 4 182
Benign 0 28
Likely benign 0 774
Conflicting classifications of pathogenicity 0 136
no classification for the single variant 0 4
Uncertain significance 0 826
Ranking
ClinVar
0
0
542
1,376
16
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM FKTR
SYNONYM LGMD2I
SYNONYM LGMDR9
SYNONYM MDC1C
SYNONYM MDDGA5
SYNONYM MDDGB5
SYNONYM MDDGC5
MIM 606596 OMIM
HGNC HGNC:17997 HGNC
Ensembl ENSG00000181027 Ensembl
AllianceGenome HGNC:17997
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000318584.10 hg38 chr19 46,746,057 46,758,575 12,519
ENST00000391909.7 hg38 chr19 46,746,057 46,757,913 11,857
ENST00000318584.10 hg19 chr19 47,249,314 47,261,832 12,519
ENST00000391909.7 hg19 chr19 47,249,314 47,261,170 11,857
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