SAMD1 sterile alpha motif domain containing 1

Information
Symbol
SAMD1
Type
protein-coding
Description
sterile alpha motif domain containing 1
Entrez Gene ID
90378
Genome
hg19
Position
chr19:14,198,663-14,201,563
Genome
hg38
Position
chr19:14,087,851-14,090,751
MIM
620206 OMIM
HGNC
HGNC:17958 HGNC
Ensembl
ENSG00000141858 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 6
Uncertain significance 0 14
Ranking
ClinVar
0
0
0
20
0
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
MIM 620206 OMIM
HGNC HGNC:17958 HGNC
Ensembl ENSG00000141858 Ensembl
AllianceGenome HGNC:17958
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000533683.7 hg38 chr19 14,087,851 14,090,751 2,901
ENST00000533683.7 hg19 chr19 14,198,663 14,201,563 2,901
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