RETREG3 reticulophagy regulator family member 3

Information
Symbol
RETREG3
Type
protein-coding
Description
reticulophagy regulator family member 3
Entrez Gene ID
162427
Genome
hg19
Position
chr17:40,731,533-40,761,392
Genome
hg38
Position
chr17:42,579,515-42,609,374
MIM
616498 OMIM
HGNC
HGNC:27258 HGNC
Ensembl
ENSG00000141699 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 2
Benign 0 22
Likely benign 0 54
Uncertain significance 0 84
Ranking
ClinVar
0
0
4
156
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 :
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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 FAM134C
MIM 616498 OMIM
HGNC HGNC:27258 HGNC
Ensembl ENSG00000141699 Ensembl
AllianceGenome HGNC:27258
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000309428.10 hg38 chr17 42,579,515 42,609,374 29,860
ENST00000585894.5 hg38 chr17 42,581,329 42,610,623 29,295
ENST00000309428.10 hg19 chr17 40,731,533 40,761,392 29,860
ENST00000585894.5 hg19 chr17 40,733,347 40,762,641 29,295
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