LDHB lactate dehydrogenase B
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 4 | 0 |
Benign | 0 | 12 |
Likely benign | 0 | 8 |
Affects | 0 | 8 |
Conflicting classifications of pathogenicity | 0 | 4 |
Uncertain significance | 0 | 58 |
Ranking
ClinVar | |
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0 |
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0 |
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10 |
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64 |
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8 |
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
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
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MGeND data only
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Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | HEL-S-281 |
SYNONYM | LDH-B |
SYNONYM | LDH-H |
SYNONYM | LDHBD |
SYNONYM | TRG-5 |
MIM | 150100 OMIM |
HGNC | HGNC:6541 HGNC |
Ensembl | ENSG00000111716 Ensembl |
AllianceGenome | HGNC:6541 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000396076.5 | hg38 | chr12 | 21,635,342 | 21,657,794 | 22,453 |
ENST00000350669.5 | hg38 | chr12 | 21,635,342 | 21,657,842 | 22,501 |
ENST00000673047.2 | hg38 | chr12 | 21,635,342 | 21,657,842 | 22,501 |
ENST00000396076.5 | hg19 | chr12 | 21,788,276 | 21,810,728 | 22,453 |
ENST00000350669.5 | hg19 | chr12 | 21,788,276 | 21,810,776 | 22,501 |
ENST00000673047.2 | hg19 | chr12 | 21,788,276 | 21,810,776 | 22,501 |
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