MRPL40 mitochondrial ribosomal protein L40

Information
Symbol
MRPL40
Type
protein-coding
Description
mitochondrial ribosomal protein L40
Entrez Gene ID
64976
Genome
hg19
Position
chr22:19,420,068-19,423,598
Genome
hg38
Position
chr22:19,432,545-19,436,075
MIM
605089 OMIM
HGNC
HGNC:14491 HGNC
Ensembl
ENSG00000185608 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 12
Likely benign 0 22
not provided 14 0
Uncertain significance 0 40
Ranking
ClinVar
0
0
2
72
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 :
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 L40mt
SYNONYM MRP-L22
SYNONYM MRP-L40
SYNONYM MRPL22
SYNONYM NLVCF
SYNONYM URIM
SYNONYM mL40
MIM 605089 OMIM
HGNC HGNC:14491 HGNC
Ensembl ENSG00000185608 Ensembl
AllianceGenome HGNC:14491
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000333130.4 hg38 chr22 19,432,545 19,436,075 3,531
ENST00000333130.4 hg19 chr22 19,420,068 19,423,598 3,531
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