PSRC1 proline and serine rich coiled-coil 1

Information
Symbol
PSRC1
Type
protein-coding
Description
proline and serine rich coiled-coil 1
Entrez Gene ID
84722
Genome
hg19
Position
chr1:109,822,187-109,825,808
Genome
hg38
Position
chr1:109,279,565-109,283,186
MIM
613126 OMIM
HGNC
HGNC:24472 HGNC
Ensembl
ENSG00000134222 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
not provided 1 0
Uncertain significance 0 38
Ranking
ClinVar
0
0
0
42
0
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 DDA3
SYNONYM FP3214
MIM 613126 OMIM
HGNC HGNC:24472 HGNC
Ensembl ENSG00000134222 Ensembl
AllianceGenome HGNC:24472
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000409138.6 hg38 chr1 109,279,565 109,283,186 3,622
ENST00000409267.5 hg38 chr1 109,279,556 109,283,125 3,570
ENST00000369909.7 hg38 chr1 109,279,556 109,283,145 3,590
ENST00000369907.7 hg38 chr1 109,279,556 109,283,147 3,592
ENST00000369903.6 hg38 chr1 109,279,585 109,283,122 3,538
ENST00000369904.7 hg38 chr1 109,279,556 109,283,115 3,560
ENST00000369904.7 hg19 chr1 109,822,178 109,825,737 3,560
ENST00000409267.5 hg19 chr1 109,822,178 109,825,747 3,570
ENST00000369909.7 hg19 chr1 109,822,178 109,825,767 3,590
ENST00000369907.7 hg19 chr1 109,822,178 109,825,769 3,592
ENST00000409138.6 hg19 chr1 109,822,187 109,825,808 3,622
ENST00000369903.6 hg19 chr1 109,822,207 109,825,744 3,538
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