NSDHL NAD(P) dependent steroid dehydrogenase-like

Information
Symbol
NSDHL
Type
protein-coding
Description
NAD(P) dependent steroid dehydrogenase-like
Entrez Gene ID
50814
Genome
hg19
Position
chrX:151,999,607-152,038,273
Genome
hg38
Position
chrX:152,831,063-152,869,729
MIM
300275 OMIM
HGNC
HGNC:13398 HGNC
Ensembl
ENSG00000147383 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 22
Likely pathogenic 0 16
Benign 0 104
Likely benign 0 126
Conflicting classifications of pathogenicity 0 26
not provided 6 2
Uncertain significance 0 122
Ranking
ClinVar
0
0
88
240
16
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 H105E3
SYNONYM SDR31E1
SYNONYM XAP104
MIM 300275 OMIM
HGNC HGNC:13398 HGNC
Ensembl ENSG00000147383 Ensembl
AllianceGenome HGNC:13398
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000370274.8 hg38 chrX 152,831,063 152,869,729 38,667
ENST00000440023.5 hg38 chrX 152,830,967 152,869,363 38,397
ENST00000440023.5 hg19 chrX 151,999,511 152,037,907 38,397
ENST00000370274.8 hg19 chrX 151,999,607 152,038,273 38,667
Genome browser