SETD1A SET domain containing 1A, histone lysine methyltransferase

Information
Symbol
SETD1A
Type
protein-coding
Description
SET domain containing 1A, histone lysine methyltransferase
Entrez Gene ID
9739
Genome
hg19
Position
chr16:30,968,615-30,995,985
Genome
hg38
Position
chr16:30,957,294-30,984,664
MIM
611052 OMIM
HGNC
HGNC:29010 HGNC
Ensembl
ENSG00000099381 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 46
Likely pathogenic 0 42
Benign 0 28
Likely benign 0 228
Conflicting classifications of pathogenicity 0 20
Uncertain significance 0 412
Ranking
ClinVar
0
0
58
674
14
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 :
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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 EPEDD
SYNONYM EPEO2
SYNONYM KMT2F
SYNONYM NEDSID
SYNONYM Set1
SYNONYM Set1A
MIM 611052 OMIM
HGNC HGNC:29010 HGNC
Ensembl ENSG00000099381 Ensembl
AllianceGenome HGNC:29010
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000684162.1 hg38 chr16 30,957,971 30,984,664 26,694
ENST00000710314.1 hg38 chr16 30,957,294 30,984,664 27,371
ENST00000262519.14 hg38 chr16 30,957,754 30,984,664 26,911
ENST00000710314.1 hg19 chr16 30,968,615 30,995,985 27,371
ENST00000262519.14 hg19 chr16 30,969,075 30,995,985 26,911
ENST00000684162.1 hg19 chr16 30,969,292 30,995,985 26,694
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