HBD hemoglobin subunit delta

Information
Symbol
HBD
Type
protein-coding
Description
hemoglobin subunit delta
Entrez Gene ID
3045
Genome
hg19
Position
chr11:5,254,068-5,264,887
Genome
hg38
Position
chr11:5,232,838-5,243,657
MIM
142000 OMIM
HGNC
HGNC:4829 HGNC
Ensembl
ENSG00000223609 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 22
Benign 4 8
Likely benign 0 2
Conflicting classifications of pathogenicity 0 6
other 0 60
Pathogenic; other 0 2
Uncertain significance 0 44
Ranking
ClinVar
0
0
4
56
78
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 HBK
MIM 142000 OMIM
HGNC HGNC:4829 HGNC
Ensembl ENSG00000223609 Ensembl
AllianceGenome HGNC:4829
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000643122.1 hg38 chr11 5,232,838 5,243,657 10,820
ENST00000650601.1 hg38 chr11 5,232,838 5,234,483 1,646
ENST00000292901.7 hg38 chr11 5,232,678 5,234,483 1,806
ENST00000292901.7 hg19 chr11 5,253,908 5,255,713 1,806
ENST00000650601.1 hg19 chr11 5,254,068 5,255,713 1,646
ENST00000643122.1 hg19 chr11 5,254,068 5,264,887 10,820
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