DHCR7 7-dehydrocholesterol reductase

Information
Symbol
DHCR7
Type
protein-coding
Description
7-dehydrocholesterol reductase
Entrez Gene ID
1717
Genome
hg19
Position
chr11:71,145,467-71,159,117
Genome
hg38
Position
chr11:71,434,421-71,448,071
MIM
602858 OMIM
HGNC
HGNC:2860 HGNC
Ensembl
ENSG00000172893 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 6 252
Likely pathogenic 0 304
Benign 0 82
Likely benign 0 712
Conflicting classifications of pathogenicity 0 212
Uncertain significance 0 380
Ranking
ClinVar
0
0
400
1,158
36
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 :
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 SLOS
MIM 602858 OMIM
HGNC HGNC:2860 HGNC
Ensembl ENSG00000172893 Ensembl
AllianceGenome HGNC:2860
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000685320.1 hg38 chr11 71,434,421 71,448,414 13,994
ENST00000682708.1 hg38 chr11 71,434,421 71,448,435 14,015
ENST00000526780.6 hg38 chr11 71,434,421 71,448,071 13,651
ENST00000683714.1 hg38 chr11 71,434,443 71,448,435 13,993
ENST00000355527.8 hg38 chr11 71,434,411 71,448,393 13,983
ENST00000407721.6 hg38 chr11 71,434,414 71,448,393 13,980
ENST00000527316.6 hg38 chr11 71,435,375 71,448,391 13,017
ENST00000683287.1 hg38 chr11 71,434,421 71,448,435 14,015
ENST00000682880.1 hg38 chr11 71,436,580 71,448,435 11,856
ENST00000355527.8 hg19 chr11 71,145,457 71,159,439 13,983
ENST00000407721.6 hg19 chr11 71,145,460 71,159,439 13,980
ENST00000526780.6 hg19 chr11 71,145,467 71,159,117 13,651
ENST00000527316.6 hg19 chr11 71,146,421 71,159,437 13,017
ENST00000682880.1 hg19 chr11 71,147,626 71,159,481 11,856
ENST00000683287.1 hg19 chr11 71,145,467 71,159,481 14,015
ENST00000682708.1 hg19 chr11 71,145,467 71,159,481 14,015
ENST00000683714.1 hg19 chr11 71,145,489 71,159,481 13,993
ENST00000685320.1 hg19 chr11 71,145,467 71,159,460 13,994
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