LDHA lactate dehydrogenase A
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 6 |
Likely pathogenic | 0 | 4 |
Benign | 0 | 70 |
Likely benign | 0 | 122 |
Conflicting classifications of pathogenicity | 0 | 16 |
Uncertain significance | 0 | 174 |
Ranking
ClinVar | |
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0 |
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0 |
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54 |
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304 |
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12 |
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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MGeND data only
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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 | GSD11 |
SYNONYM | HEL-S-133P |
SYNONYM | LDHM |
SYNONYM | PIG19 |
MIM | 150000 OMIM |
HGNC | HGNC:6535 HGNC |
Ensembl | ENSG00000134333 Ensembl |
AllianceGenome | HGNC:6535 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000430553.6 | hg38 | chr11 | 18,394,562 | 18,407,667 | 13,106 |
ENST00000227157.8 | hg38 | chr11 | 18,394,586 | 18,408,218 | 13,633 |
ENST00000422447.8 | hg38 | chr11 | 18,394,563 | 18,408,425 | 13,863 |
ENST00000542179.1 | hg38 | chr11 | 18,396,554 | 18,407,281 | 10,728 |
ENST00000396222.6 | hg38 | chr11 | 18,394,562 | 18,408,218 | 13,657 |
ENST00000379412.9 | hg38 | chr11 | 18,396,278 | 18,407,847 | 11,570 |
ENST00000227157.8 | hg19 | chr11 | 18,416,133 | 18,429,765 | 13,633 |
ENST00000379412.9 | hg19 | chr11 | 18,417,825 | 18,429,394 | 11,570 |
ENST00000430553.6 | hg19 | chr11 | 18,416,109 | 18,429,214 | 13,106 |
ENST00000396222.6 | hg19 | chr11 | 18,416,109 | 18,429,765 | 13,657 |
ENST00000422447.8 | hg19 | chr11 | 18,416,110 | 18,429,972 | 13,863 |
ENST00000542179.1 | hg19 | chr11 | 18,418,101 | 18,428,828 | 10,728 |
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