chr1:161310428:G>A Detail (hg19) (SDHC)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr1:161,310,428-161,310,428
hg38	chr1:161,340,638-161,340,638 View the variant detail on this assembly version.

HGVS

SDHC

Type	Transcript	Protein
RefSeq	NM_001035513.1:c.65G>A	NP_001030590.1:p.Gly22Asp
	NM_001035511.1:c.224G>A	NP_001030588.1:p.Gly75Asp
	NM_001035512.1:c.122G>A	NP_001030589.1:p.Gly41Asp
	NM_003001.3:c.224G>A	NP_002992.1:p.Gly75Asp
	NM_001278172.1:c.122G>A	NP_001265101.1:p.Gly41Asp
Ensemble	ENST00000392169.6:c.65G>A	ENST00000392169.6:p.Gly22Asp
	ENST00000714065.1:c.113G>A	ENST00000714065.1:p.Gly38Asp
	ENST00000342751.8:c.224G>A	ENST00000342751.8:p.Gly75Asp
	ENST00000432287.6:c.122G>A	ENST00000432287.6:p.Gly41Asp
	ENST00000714066.1:c.113G>A	ENST00000714066.1:p.Gly38Asp
	ENST00000367975.7:c.224G>A	ENST00000367975.7:p.Gly75Asp
	ENST00000714063.1:c.254G>A	ENST00000714063.1:p.Gly85Asp
	ENST00000515731.2:c.113G>A	ENST00000515731.2:p.Gly38Asp
	ENST00000513009.5:c.122G>A	ENST00000513009.5:p.Gly41Asp
	ENST00000714064.1:c.113G>A	ENST00000714064.1:p.Gly38Asp

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
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Links

SDHC

Type	Database	ID	Link
Gene	MIM	602413	OMIM
	HGNC	10682	HGNC
	Ensembl	ENSG00000143252	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic		no assertion criteria provided	Carney triad	germline	Detail
Pathogenic	2020-06-01	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic	2021-10-25	criteria provided, single submitter	gastrointestinal stromal tumor,Paragangliomas 3	germline	Detail
Likely pathogenic	2021-10-25	criteria provided, single submitter	gastrointestinal stromal tumor,Paragangliomas 3	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.121	Carney triad	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_003001.5(SDHC):c.224G>A (p.Gly75Asp) AND Carney triad	ClinVar	Detail
NM_003001.5(SDHC):c.224G>A (p.Gly75Asp) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_003001.5(SDHC):c.224G>A (p.Gly75Asp) AND multiple conditions	ClinVar	Detail
NM_003001.5(SDHC):c.224G>A (p.Gly75Asp) AND multiple conditions	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs786205147 dbSNP
Genome: hg19
Position: chr1:161,310,428-161,310,428
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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