RFXAP regulatory factor X associated protein

Information
Symbol
RFXAP
Type
protein-coding
Description
regulatory factor X associated protein
Entrez Gene ID
5994
Genome
hg19
Position
chr13:37,393,359-37,403,241
Genome
hg38
Position
chr13:36,819,222-36,829,104
MIM
601861 OMIM
HGNC
HGNC:9988 HGNC
Ensembl
ENSG00000133111 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 30
Likely pathogenic 0 6
Benign 2 22
Likely benign 0 96
Conflicting classifications of pathogenicity 0 8
Uncertain significance 0 198
Ranking
ClinVar
0
0
38
292
14
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 MHC2D4
MIM 601861 OMIM
HGNC HGNC:9988 HGNC
Ensembl ENSG00000133111 Ensembl
AllianceGenome HGNC:9988
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000255476.3 hg38 chr13 36,819,222 36,829,104 9,883
ENST00000255476.3 hg19 chr13 37,393,359 37,403,241 9,883
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