RSRC2 arginine and serine rich coiled-coil 2

Information
Symbol
RSRC2
Type
protein-coding
Description
arginine and serine rich coiled-coil 2
Entrez Gene ID
65117
Genome
hg19
Position
chr12:122,988,001-123,011,483
Genome
hg38
Position
chr12:122,503,454-122,526,936
MIM
619996 OMIM
HGNC
HGNC:30559 HGNC
Ensembl
ENSG00000111011 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Uncertain significance 0 20
Ranking
ClinVar
0
0
0
20
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
MIM 619996 OMIM
HGNC HGNC:30559 HGNC
Ensembl ENSG00000111011 Ensembl
AllianceGenome HGNC:30559
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000331738.12 hg38 chr12 122,503,454 122,526,936 23,483
ENST00000331738.12 hg19 chr12 122,988,001 123,011,483 23,483
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