HMBS hydroxymethylbilane synthase

Information
Symbol
HMBS
Type
protein-coding
Description
hydroxymethylbilane synthase
Entrez Gene ID
3145
Genome
hg19
Position
chr11:118,955,591-118,964,259
Genome
hg38
Position
chr11:119,084,881-119,093,549
MIM
609806 OMIM
HGNC
HGNC:4982 HGNC
Ensembl
ENSG00000256269 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 244
Likely pathogenic 0 68
Benign 8 62
Likely benign 0 340
Conflicting classifications of pathogenicity 0 32
Uncertain significance 0 408
Ranking
ClinVar
0
0
130
904
50
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 ENCEP
SYNONYM LENCEP
SYNONYM PBG-D
SYNONYM PBGD
SYNONYM PORC
SYNONYM UPS
MIM 609806 OMIM
HGNC HGNC:4982 HGNC
Ensembl ENSG00000256269 Ensembl
AllianceGenome HGNC:4982
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000442944.7 hg38 chr11 119,084,883 119,093,512 8,630
ENST00000648374.1 hg38 chr11 119,087,995 119,093,547 5,553
ENST00000650101.1 hg38 chr11 119,085,222 119,093,512 8,291
ENST00000544387.5 hg38 chr11 119,084,914 119,093,548 8,635
ENST00000542729.5 hg38 chr11 119,084,885 119,093,546 8,662
ENST00000392841.1 hg38 chr11 119,087,987 119,093,549 5,563
ENST00000543090.5 hg38 chr11 119,084,930 119,093,533 8,604
ENST00000537841.5 hg38 chr11 119,084,885 119,093,516 8,632
ENST00000652429.1 hg38 chr11 119,084,881 119,093,549 8,669
ENST00000686218.1 hg38 chr11 119,085,271 119,093,834 8,564
ENST00000392841.1 hg19 chr11 118,958,697 118,964,259 5,563
ENST00000543090.5 hg19 chr11 118,955,640 118,964,243 8,604
ENST00000544387.5 hg19 chr11 118,955,624 118,964,258 8,635
ENST00000652429.1 hg19 chr11 118,955,591 118,964,259 8,669
ENST00000442944.7 hg19 chr11 118,955,593 118,964,222 8,630
ENST00000537841.5 hg19 chr11 118,955,595 118,964,226 8,632
ENST00000542729.5 hg19 chr11 118,955,595 118,964,256 8,662
ENST00000686218.1 hg19 chr11 118,955,981 118,964,544 8,564
ENST00000650101.1 hg19 chr11 118,955,932 118,964,222 8,291
ENST00000648374.1 hg19 chr11 118,958,705 118,964,257 5,553
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