RESP18 regulated endocrine specific protein 18

Information
Symbol
RESP18
Type
protein-coding
Description
regulated endocrine specific protein 18
Entrez Gene ID
389075
Genome
hg19
Position
chr2:220,192,129-220,197,899
Genome
hg38
Position
chr2:219,327,407-219,333,177
MIM
612721 OMIM
HGNC
HGNC:33762 HGNC
Ensembl
ENSG00000182698 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 30
Ranking
ClinVar
0
0
0
32
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 :
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 612721 OMIM
HGNC HGNC:33762 HGNC
Ensembl ENSG00000182698 Ensembl
AllianceGenome HGNC:33762
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000333527.6 hg38 chr2 219,327,407 219,333,177 5,771
ENST00000392083.5 hg38 chr2 219,327,409 219,332,629 5,221
ENST00000333527.6 hg19 chr2 220,192,129 220,197,899 5,771
ENST00000392083.5 hg19 chr2 220,192,131 220,197,351 5,221
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