ERAL1 Era like 12S mitochondrial rRNA chaperone 1

Information
Symbol
ERAL1
Type
protein-coding
Description
Era like 12S mitochondrial rRNA chaperone 1
Entrez Gene ID
26284
Genome
hg19
Position
chr17:27,182,034-27,188,079
Genome
hg38
Position
chr17:28,855,016-28,861,061
MIM
607435 OMIM
HGNC
HGNC:3424 HGNC
Ensembl
ENSG00000132591 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 0 20
Likely benign 0 12
Uncertain significance 0 36
Ranking
ClinVar
0
0
2
66
2
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 CEGA
SYNONYM ERA
SYNONYM ERA-W
SYNONYM ERAL1A
SYNONYM ERAL1B
SYNONYM H-ERA
SYNONYM HERA-A
SYNONYM HERA-B
SYNONYM PRLTS6
MIM 607435 OMIM
HGNC HGNC:3424 HGNC
Ensembl ENSG00000132591 Ensembl
AllianceGenome HGNC:3424
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000254928.10 hg38 chr17 28,855,016 28,861,061 6,046
ENST00000254928.10 hg19 chr17 27,182,034 27,188,079 6,046
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