MPC1L mitochondrial pyruvate carrier 1 like

Information
Symbol
MPC1L
Type
protein-coding
Description
mitochondrial pyruvate carrier 1 like
Entrez Gene ID
347411
Genome
hg19
Position
chrX:40,482,680-40,483,388
Genome
hg38
Position
chrX:40,623,428-40,624,136
MIM
301103 OMIM
HGNC
HGNC:44205 HGNC
Ensembl
ENSG00000238205 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Conflicting classifications of pathogenicity 0 2
not provided 6 0
Uncertain significance 0 2
Ranking
ClinVar
0
0
0
2
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 :
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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 SLC54A3
MIM 301103 OMIM
HGNC HGNC:44205 HGNC
Ensembl ENSG00000238205 Ensembl
AllianceGenome HGNC:44205
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000423387.4 hg38 chrX 40,623,428 40,624,136 709
ENST00000423387.4 hg19 chrX 40,482,680 40,483,388 709
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