RPH3A rabphilin 3A

Information
Symbol
RPH3A
Type
protein-coding
Description
rabphilin 3A
Entrez Gene ID
22895
Genome
hg19
Position
chr12:113,229,553-113,336,686
Genome
hg38
Position
chr12:112,791,748-112,898,881
MIM
612159 OMIM
HGNC
HGNC:17056 HGNC
Ensembl
ENSG00000089169 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 0 6
Likely benign 0 4
Uncertain significance 0 76
Ranking
ClinVar
0
0
2
84
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 :
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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
MIM 612159 OMIM
HGNC HGNC:17056 HGNC
Ensembl ENSG00000089169 Ensembl
AllianceGenome HGNC:17056
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000551052.5 hg38 chr12 112,791,937 112,897,453 105,517
ENST00000548866.5 hg38 chr12 112,792,188 112,897,177 104,990
ENST00000543106.6 hg38 chr12 112,575,097 112,896,914 321,818
ENST00000415485.7 hg38 chr12 112,792,016 112,898,881 106,866
ENST00000389385.9 hg38 chr12 112,791,748 112,898,881 107,134
ENST00000389385.9 hg19 chr12 113,229,553 113,336,686 107,134
ENST00000415485.7 hg19 chr12 113,229,821 113,336,686 106,866
ENST00000543106.6 hg19 chr12 113,012,901 113,334,719 321,819
ENST00000548866.5 hg19 chr12 113,229,993 113,334,982 104,990
ENST00000551052.5 hg19 chr12 113,229,742 113,335,258 105,517
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