BIVM-ERCC5 BIVM-ERCC5 readthrough

Information
Symbol
BIVM-ERCC5
Type
protein-coding
Description
BIVM-ERCC5 readthrough
Entrez Gene ID
100533467
Genome
hg19
Position
chr13:103,451,460-103,528,344
Genome
hg38
Position
chr13:102,799,110-102,875,994
HGNC
HGNC:43690 HGNC
Ensembl
ENSG00000270181 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 1 46
Likely pathogenic 1 48
Benign 0 146
Likely benign 0 206
Conflicting classifications of pathogenicity 0 82
not provided 13 20
Uncertain significance 29 322
Ranking
ClinVar
0
0
184
508
32
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 ERCC5-202
HGNC HGNC:43690 HGNC
Ensembl ENSG00000270181 Ensembl
AllianceGenome HGNC:43690
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000639132.1 hg38 chr13 102,799,322 102,875,991 76,670
ENST00000639435.1 hg38 chr13 102,799,110 102,875,994 76,885
ENST00000639435.1 hg19 chr13 103,451,460 103,528,344 76,885
ENST00000639132.1 hg19 chr13 103,451,672 103,528,341 76,670
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