MRPL1 mitochondrial ribosomal protein L1

Information
Symbol
MRPL1
Type
protein-coding
Description
mitochondrial ribosomal protein L1
Entrez Gene ID
65008
Genome
hg19
Position
chr4:78,783,984-78,873,939
Genome
hg38
Position
chr4:77,862,830-77,952,785
MIM
611821 OMIM
HGNC
HGNC:14275 HGNC
Ensembl
ENSG00000169288 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 30
Ranking
ClinVar
0
0
0
32
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
[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 BM022
SYNONYM L1MT
SYNONYM MRP-L1
SYNONYM uL1m
MIM 611821 OMIM
HGNC HGNC:14275 HGNC
Ensembl ENSG00000169288 Ensembl
AllianceGenome HGNC:14275
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000315567.13 hg38 chr4 77,862,830 77,952,785 89,956
ENST00000315567.13 hg19 chr4 78,783,984 78,873,939 89,956
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