HBG1 hemoglobin subunit gamma 1

Information
Symbol
HBG1
Type
protein-coding
Description
hemoglobin subunit gamma 1
Entrez Gene ID
3047
Genome
hg19
Position
chr11:5,269,499-5,271,087
Genome
hg38
Position
chr11:5,248,269-5,249,857
MIM
142200 OMIM
HGNC
HGNC:4831 HGNC
Ensembl
ENSG00000213934 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 16
Likely benign 0 14
no classification for the single variant 0 2
other 0 40
Uncertain significance 0 10
Ranking
ClinVar
0
0
2
38
40
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 HBG-T2
SYNONYM HBGA
SYNONYM HBGR
SYNONYM HSGGL1
SYNONYM PRO2979
MIM 142200 OMIM
HGNC HGNC:4831 HGNC
Ensembl ENSG00000213934 Ensembl
AllianceGenome HGNC:4831
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000330597.5 hg38 chr11 5,248,269 5,249,857 1,589
ENST00000632727.1 hg38 chr11 5,248,428 5,249,836 1,409
ENST00000330597.5 hg19 chr11 5,269,499 5,271,087 1,589
ENST00000632727.1 hg19 chr11 5,269,658 5,271,066 1,409
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