SDHD succinate dehydrogenase complex subunit D

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: SDHD
Type: protein-coding
Description: succinate dehydrogenase complex subunit D
Entrez Gene ID: 6392
Genome: hg19
Position: chr11:111,957,597-111,966,518
Genome: hg38
Position: chr11:112,086,873-112,095,794
MIM: 602690 OMIM
HGNC: HGNC:10683 HGNC
Ensembl: ENSG00000204370 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	1	186
Likely pathogenic	1	96
Benign	4	52
Likely benign	0	414
Conflicting classifications of pathogenicity	0	78
not provided	3	0
Uncertain significance	7	690

Ranking

	ClinVar
	0
	0
	516
	854
	20

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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Target data	:	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
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

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Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Search Word

Target data	:	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
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
SYNONYM	CBT1
SYNONYM	CII-4
SYNONYM	CWS3
SYNONYM	MC2DN3
SYNONYM	PGL
SYNONYM	PGL1
SYNONYM	PPGL1
SYNONYM	QPs3
SYNONYM	SDH4
SYNONYM	cybS
MIM	602690 OMIM
HGNC	HGNC:10683 HGNC
Ensembl	ENSG00000204370 Ensembl
AllianceGenome	HGNC:10683

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000375549.8	hg38	chr11	112,086,873	112,095,794	8,922
ENST00000528021.6	hg38	chr11	112,086,873	112,120,016	33,144
ENST00000526592.5	hg38	chr11	112,086,899	112,095,212	8,314
ENST00000528048.5	hg38	chr11	112,086,873	112,095,505	8,633
ENST00000525291.5	hg38	chr11	112,086,899	112,095,388	8,490
ENST00000528182.5	hg38	chr11	112,086,872	112,095,215	8,344
ENST00000528182.5	hg19	chr11	111,957,596	111,965,939	8,344
ENST00000528048.5	hg19	chr11	111,957,597	111,966,229	8,633
ENST00000375549.8	hg19	chr11	111,957,597	111,966,518	8,922
ENST00000528021.6	hg19	chr11	111,957,597	111,990,739	33,143
ENST00000526592.5	hg19	chr11	111,957,623	111,965,936	8,314
ENST00000525291.5	hg19	chr11	111,957,623	111,966,112	8,490

Key	Value
strand	+
start	111,957,547
Gene Symbol	SDHD
Entrez GeneId	6,392
Chr Band	11q23
end	111,966,524
chr	chr11
Name	succinate dehydrogenase complex, subunit D, integral membrane protein

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