SAMD9 sterile alpha motif domain containing 9

Information
Symbol
SAMD9
Type
protein-coding
Description
sterile alpha motif domain containing 9
Entrez Gene ID
54809
Genome
hg19
Position
chr7:92,728,831-92,747,292
Genome
hg38
Position
chr7:93,099,518-93,117,979
MIM
610456 OMIM
HGNC
HGNC:1348 HGNC
Ensembl
ENSG00000205413 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 16 26
Likely pathogenic 0 44
Benign 0 56
Likely benign 0 824
Conflicting classifications of pathogenicity 0 78
not provided 0 2
Uncertain significance 0 1,234
Ranking
ClinVar
0
0
382
1,754
18
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 C7orf5
SYNONYM DRIF1
SYNONYM M7MLS2
SYNONYM MIRAGE
SYNONYM NFTC
SYNONYM OEF1
SYNONYM OEF2
MIM 610456 OMIM
HGNC HGNC:1348 HGNC
Ensembl ENSG00000205413 Ensembl
AllianceGenome HGNC:1348
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000379958.3 hg38 chr7 93,099,518 93,117,979 18,462
ENST00000620985.4 hg38 chr7 93,099,513 93,118,023 18,511
ENST00000620985.4 hg19 chr7 92,728,826 92,747,336 18,511
ENST00000379958.3 hg19 chr7 92,728,831 92,747,292 18,462
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