NT5C1B-RDH14 NT5C1B-RDH14 readthrough

Information
Symbol
NT5C1B-RDH14
Type
protein-coding
Description
NT5C1B-RDH14 readthrough
Entrez Gene ID
100526794
Genome
hg19
Position
chr2:18,736,811-18,770,828
Genome
hg38
Position
chr2:18,555,545-18,589,562
HGNC
HGNC:38831 HGNC
Ensembl
ENSG00000250741 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Benign 0 8
Likely benign 0 12
Uncertain significance 0 128
Ranking
ClinVar
0
0
0
148
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 AIRP
SYNONYM NT5C1B
SYNONYM cN-IB
SYNONYM cN1B
HGNC HGNC:38831 HGNC
Ensembl ENSG00000250741 Ensembl
AllianceGenome HGNC:38831
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000532967.5 hg38 chr2 18,555,545 18,589,562 34,018
ENST00000532967.5 hg19 chr2 18,736,811 18,770,828 34,018
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