MPC1 mitochondrial pyruvate carrier 1

Information
Symbol
MPC1
Type
protein-coding
Description
mitochondrial pyruvate carrier 1
Entrez Gene ID
51660
Genome
hg19
Position
chr6:166,778,407-166,796,428
Genome
hg38
Position
chr6:166,364,919-166,382,940
MIM
614738 OMIM
HGNC
HGNC:21606 HGNC
Ensembl
ENSG00000060762 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely pathogenic 0 8
Benign 0 24
Likely benign 0 28
Uncertain significance 0 22
Ranking
ClinVar
0
0
14
66
4
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
SYNONYM BRP44L
SYNONYM CGI-129
SYNONYM MPYCD
SYNONYM SLC54A1
MIM 614738 OMIM
HGNC HGNC:21606 HGNC
Ensembl ENSG00000060762 Ensembl
AllianceGenome HGNC:21606
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000360961.11 hg38 chr6 166,364,919 166,382,940 18,022
ENST00000621630.1 hg38 chr6 166,364,919 166,383,013 18,095
ENST00000360961.11 hg19 chr6 166,778,407 166,796,428 18,022
ENST00000621630.1 hg19 chr6 166,778,407 166,796,501 18,095
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