PROSER1 proline and serine rich 1

Information
Symbol
PROSER1
Type
protein-coding
Description
proline and serine rich 1
Entrez Gene ID
80209
Genome
hg19
Position
chr13:39,584,002-39,612,226
Genome
hg38
Position
chr13:39,009,865-39,038,089
MIM
620773 OMIM
HGNC
HGNC:20291 HGNC
Ensembl
ENSG00000120685 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 6
Uncertain significance 0 116
Ranking
ClinVar
0
0
0
126
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 :
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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 C13orf23
MIM 620773 OMIM
HGNC HGNC:20291 HGNC
Ensembl ENSG00000120685 Ensembl
AllianceGenome HGNC:20291
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000352251.8 hg38 chr13 39,009,865 39,038,089 28,225
ENST00000625998.2 hg38 chr13 39,009,866 39,038,076 28,211
ENST00000352251.8 hg19 chr13 39,584,002 39,612,226 28,225
ENST00000625998.2 hg19 chr13 39,584,003 39,612,213 28,211
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