SLC25A46 solute carrier family 25 member 46

Information
Symbol
SLC25A46
Type
protein-coding
Description
solute carrier family 25 member 46
Entrez Gene ID
91137
Genome
hg19
Position
chr5:110,074,708-110,100,857
Genome
hg38
Position
chr5:110,739,007-110,765,157
MIM
610826 OMIM
HGNC
HGNC:25198 HGNC
Ensembl
ENSG00000164209 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 38
Likely pathogenic 0 22
Benign 0 58
Likely benign 0 250
Conflicting classifications of pathogenicity 0 24
Uncertain significance 0 352
Ranking
ClinVar
0
0
100
596
18
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 HMSN6B
SYNONYM PCH1E
MIM 610826 OMIM
HGNC HGNC:25198 HGNC
Ensembl ENSG00000164209 Ensembl
AllianceGenome HGNC:25198
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000504098.1 hg38 chr5 110,741,678 110,762,784 21,107
ENST00000447245.6 hg38 chr5 110,739,041 110,762,264 23,224
ENST00000509432.1 hg38 chr5 110,755,120 110,762,213 7,094
ENST00000513807.5 hg38 chr5 110,738,161 110,762,267 24,107
ENST00000355943.8 hg38 chr5 110,739,007 110,765,157 26,151
ENST00000513807.5 hg19 chr5 110,073,862 110,097,967 24,106
ENST00000355943.8 hg19 chr5 110,074,708 110,100,857 26,150
ENST00000447245.6 hg19 chr5 110,074,742 110,097,964 23,223
ENST00000504098.1 hg19 chr5 110,077,379 110,098,484 21,106
ENST00000509432.1 hg19 chr5 110,090,820 110,097,913 7,094
Genome browser