MPV17 mitochondrial inner membrane protein MPV17

Information
Symbol
MPV17
Type
protein-coding
Description
mitochondrial inner membrane protein MPV17
Entrez Gene ID
4358
Genome
hg19
Position
chr2:27,532,360-27,545,964
Genome
hg38
Position
chr2:27,309,492-27,323,097
MIM
137960 OMIM
HGNC
HGNC:7224 HGNC
Ensembl
ENSG00000115204 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 10 98
Likely pathogenic 0 94
Benign 0 10
Likely benign 0 288
Conflicting classifications of pathogenicity 0 42
Uncertain significance 2 142
Ranking
ClinVar
0
0
110
470
8
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 CMT2EE
SYNONYM MTDPS6
SYNONYM SYM1
MIM 137960 OMIM
HGNC HGNC:7224 HGNC
Ensembl ENSG00000115204 Ensembl
AllianceGenome HGNC:7224
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000405076.5 hg38 chr2 27,309,707 27,323,102 13,396
ENST00000233545.6 hg38 chr2 27,309,492 27,322,564 13,073
ENST00000402310.5 hg38 chr2 27,309,492 27,323,054 13,563
ENST00000399052.8 hg38 chr2 27,315,716 27,323,097 7,382
ENST00000403262.6 hg38 chr2 27,311,495 27,323,067 11,573
ENST00000402722.5 hg38 chr2 27,309,530 27,323,081 13,552
ENST00000357186.10 hg38 chr2 27,309,494 27,325,680 16,187
ENST00000380044.6 hg38 chr2 27,309,492 27,323,097 13,606
ENST00000405983.5 hg38 chr2 27,309,646 27,323,063 13,418
ENST00000233545.6 hg19 chr2 27,532,360 27,545,431 13,072
ENST00000402310.5 hg19 chr2 27,532,360 27,545,921 13,562
ENST00000380044.6 hg19 chr2 27,532,360 27,545,964 13,605
ENST00000357186.10 hg19 chr2 27,532,362 27,548,547 16,186
ENST00000402722.5 hg19 chr2 27,532,398 27,545,948 13,551
ENST00000399052.8 hg19 chr2 27,538,583 27,545,964 7,382
ENST00000405983.5 hg19 chr2 27,532,514 27,545,930 13,417
ENST00000405076.5 hg19 chr2 27,532,575 27,545,969 13,395
ENST00000403262.6 hg19 chr2 27,534,363 27,545,934 11,572
Genome browser