SON SON DNA and RNA binding protein

Information
Symbol
SON
Type
protein-coding
Description
SON DNA and RNA binding protein
Entrez Gene ID
6651
Genome
hg19
Position
chr21:34,915,344-34,949,787
Genome
hg38
Position
chr21:33,543,038-33,577,481
MIM
182465 OMIM
HGNC
HGNC:11183 HGNC
Ensembl
ENSG00000159140 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 166
Likely pathogenic 0 60
Benign 0 258
Likely benign 0 972
Conflicting classifications of pathogenicity 0 58
Uncertain significance 0 1,064
Ranking
ClinVar
0
0
320
2,094
24
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 BASS1
SYNONYM C21orf50
SYNONYM DBP-5
SYNONYM NREBP
SYNONYM SON3
SYNONYM TOKIMS
MIM 182465 OMIM
HGNC HGNC:11183 HGNC
Ensembl ENSG00000159140 Ensembl
AllianceGenome HGNC:11183
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000356577.10 hg38 chr21 33,543,038 33,577,481 34,444
ENST00000381679.8 hg38 chr21 33,543,065 33,559,056 15,992
ENST00000300278.8 hg38 chr21 33,543,064 33,560,667 17,604
ENST00000704334.1 hg38 chr21 33,543,050 33,577,423 34,374
ENST00000381692.6 hg38 chr21 33,543,052 33,577,481 34,430
ENST00000356577.10 hg19 chr21 34,915,344 34,949,787 34,444
ENST00000381692.6 hg19 chr21 34,915,358 34,949,787 34,430
ENST00000300278.8 hg19 chr21 34,915,370 34,932,973 17,604
ENST00000381679.8 hg19 chr21 34,915,371 34,931,362 15,992
ENST00000704334.1 hg19 chr21 34,915,356 34,949,729 34,374
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