HMSD histocompatibility minor serpin domain containing

Information
Symbol
HMSD
Type
protein-coding
Description
histocompatibility minor serpin domain containing
Entrez Gene ID
284293
Genome
hg19
Position
chr18:61,616,535-61,629,069
Genome
hg38
Position
chr18:63,949,301-63,961,835
MIM
612086 OMIM
HGNC
HGNC:23037 HGNC
Ensembl
ENSG00000221887 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 18
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
SYNONYM ACC-6
SYNONYM ACC6
SYNONYM C18orf53
SYNONYM HSMD-v
MIM 612086 OMIM
HGNC HGNC:23037 HGNC
Ensembl ENSG00000221887 Ensembl
AllianceGenome HGNC:23037
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000408945.5 hg38 chr18 63,949,301 63,961,835 12,535
ENST00000526932.1 hg38 chr18 63,954,439 63,960,200 5,762
ENST00000408945.5 hg19 chr18 61,616,535 61,629,069 12,535
ENST00000526932.1 hg19 chr18 61,621,673 61,627,434 5,762
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