LDHD lactate dehydrogenase D
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Likely pathogenic | 0 | 4 |
Benign | 0 | 18 |
Likely benign | 0 | 6 |
Uncertain significance | 0 | 66 |
Ranking
ClinVar | |
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0 |
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0 |
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12 |
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82 |
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2 |
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
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
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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 | DLACD |
SYNONYM | DLD |
MIM | 607490 OMIM |
HGNC | HGNC:19708 HGNC |
Ensembl | ENSG00000166816 Ensembl |
AllianceGenome | HGNC:19708 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000450168.3 | hg38 | chr16 | 75,111,864 | 75,116,780 | 4,917 |
ENST00000300051.8 | hg38 | chr16 | 75,111,860 | 75,116,767 | 4,908 |
ENST00000300051.8 | hg19 | chr16 | 75,145,758 | 75,150,665 | 4,908 |
ENST00000450168.3 | hg19 | chr16 | 75,145,762 | 75,150,678 | 4,917 |
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