SAC3D1 SAC3 domain containing 1

Information
Symbol
SAC3D1
Type
protein-coding
Description
SAC3 domain containing 1
Entrez Gene ID
29901
Genome
hg19
Position
chr11:64,808,373-64,812,271
Genome
hg38
Position
chr11:65,040,901-65,044,799
MIM
618796 OMIM
HGNC
HGNC:30179 HGNC
Ensembl
ENSG00000168061 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 8
Uncertain significance 0 46
Ranking
ClinVar
0
0
0
54
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
SYNONYM HSU79266
SYNONYM SHD1
MIM 618796 OMIM
HGNC HGNC:30179 HGNC
Ensembl ENSG00000168061 Ensembl
AllianceGenome HGNC:30179
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000652489.1 hg38 chr11 65,041,210 65,044,828 3,619
ENST00000531072.1 hg38 chr11 65,040,901 65,044,799 3,899
ENST00000674184.1 hg38 chr11 65,041,245 65,044,828 3,584
ENST00000398846.6 hg38 chr11 65,040,970 65,044,828 3,859
ENST00000531072.1 hg19 chr11 64,808,373 64,812,271 3,899
ENST00000398846.6 hg19 chr11 64,808,442 64,812,300 3,859
ENST00000652489.1 hg19 chr11 64,808,682 64,812,300 3,619
ENST00000674184.1 hg19 chr11 64,808,717 64,812,300 3,584
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