PRRT1 proline rich transmembrane protein 1

Information
Symbol
PRRT1
Type
protein-coding
Description
proline rich transmembrane protein 1
Entrez Gene ID
80863
Genome
hg19
Position
chr6:32,116,140-32,119,716
Genome
hg38
Position
chr6:32,148,363-32,151,939
MIM
618297 OMIM
HGNC
HGNC:13943 HGNC
Ensembl
ENSG00000204314 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 20
Ranking
ClinVar
0
0
0
20
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
[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 C6orf31
SYNONYM DSPD1
SYNONYM IFITMD7
SYNONYM NG5
SYNONYM SynDIG4
MIM 618297 OMIM
HGNC HGNC:13943 HGNC
Ensembl ENSG00000204314 Ensembl
AllianceGenome HGNC:13943
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000211413.10 hg38 chr6 32,148,363 32,151,939 3,577
ENST00000375150.6 hg38 chr6 32,148,359 32,153,083 4,725
ENST00000375150.6 hg19 chr6 32,116,136 32,120,860 4,725
ENST00000211413.10 hg19 chr6 32,116,140 32,119,716 3,577
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