OTOP2 otopetrin 2

Information
Symbol
OTOP2
Type
protein-coding
Description
otopetrin 2
Entrez Gene ID
92736
Genome
hg19
Position
chr17:72,920,368-72,930,007
Genome
hg38
Position
chr17:74,924,273-74,933,912
MIM
607827 OMIM
HGNC
HGNC:19657 HGNC
Ensembl
ENSG00000183034 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 6
Benign 0 4
Likely benign 0 14
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 114
Ranking
ClinVar
0
0
10
128
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
MIM 607827 OMIM
HGNC HGNC:19657 HGNC
Ensembl ENSG00000183034 Ensembl
AllianceGenome HGNC:19657
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000331427.9 hg38 chr17 74,924,273 74,933,912 9,640
ENST00000580223.2 hg38 chr17 74,922,950 74,933,912 10,963
ENST00000580223.2 hg19 chr17 72,919,045 72,930,007 10,963
ENST00000331427.9 hg19 chr17 72,920,368 72,930,007 9,640
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