RFX1 regulatory factor X1

Information
Symbol
RFX1
Type
protein-coding
Description
regulatory factor X1
Entrez Gene ID
5989
Genome
hg19
Position
chr19:14,072,342-14,117,132
Genome
hg38
Position
chr19:13,961,530-14,006,320
MIM
600006 OMIM
HGNC
HGNC:9982 HGNC
Ensembl
ENSG00000132005 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 26
Likely benign 0 10
Uncertain significance 0 108
Ranking
ClinVar
0
0
0
142
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
[No Data.]
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 EFC
SYNONYM RFX
MIM 600006 OMIM
HGNC HGNC:9982 HGNC
Ensembl ENSG00000132005 Ensembl
AllianceGenome HGNC:9982
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000254325.9 hg38 chr19 13,961,530 14,006,320 44,791
ENST00000254325.9 hg19 chr19 14,072,342 14,117,132 44,791
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