RFXANK regulatory factor X associated ankyrin containing protein

Information
Symbol
RFXANK
Type
protein-coding
Description
regulatory factor X associated ankyrin containing protein
Entrez Gene ID
8625
Genome
hg19
Position
chr19:19,303,067-19,312,675
Genome
hg38
Position
chr19:19,192,258-19,201,866
MIM
603200 OMIM
HGNC
HGNC:9987 HGNC
Ensembl
ENSG00000064490 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 34
Likely pathogenic 0 27
Benign 2 22
Likely benign 0 232
Conflicting classifications of pathogenicity 0 26
Uncertain significance 0 200
Ranking
ClinVar
0
0
64
423
2
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 ANKRA1
SYNONYM BLS
SYNONYM F14150_1
SYNONYM MHC2D2
SYNONYM RFX-B
MIM 603200 OMIM
HGNC HGNC:9987 HGNC
Ensembl ENSG00000064490 Ensembl
AllianceGenome HGNC:9987
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000392324.8 hg38 chr19 19,192,911 19,201,866 8,956
ENST00000303088.9 hg38 chr19 19,192,258 19,201,866 9,609
ENST00000456252.7 hg38 chr19 19,192,243 19,201,866 9,624
ENST00000407360.7 hg38 chr19 19,192,763 19,201,802 9,040
ENST00000456252.7 hg19 chr19 19,303,052 19,312,675 9,624
ENST00000303088.9 hg19 chr19 19,303,067 19,312,675 9,609
ENST00000407360.7 hg19 chr19 19,303,572 19,312,611 9,040
ENST00000392324.8 hg19 chr19 19,303,720 19,312,675 8,956
Genome browser