chr1:161326631: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	chr1:161,326,631-161,326,631
hg38	chr1:161,356,841-161,356,841 View the variant detail on this assembly version.

HGVS

SDHC

Type	Transcript	Protein
RefSeq	NM_001278172.1:c.140-5488G>A
	NM_003001.3:c.405+1G>A
	NM_001035512.1:c.303+1G>A
	NM_001035511.1:c.242-5488G>A
	NM_001035513.1:c.246+1G>A
Ensemble	ENST00000714064.1:c.294+1G>A
	ENST00000513009.5:c.140-5488G>A
	ENST00000515731.2:c.131-5488G>A
	ENST00000714063.1:c.435+1G>A
	ENST00000367975.7:c.405+1G>A
	ENST00000714066.1:c.294+1G>A
	ENST00000432287.6:c.303+1G>A
	ENST00000342751.8:c.242-5488G>A
	ENST00000714065.1:c.294+1G>A
	ENST00000392169.6:c.246+1G>A

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

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
Pathogenic	2011-01-04	no assertion criteria provided	Carney-Stratakis syndrome	germline	Detail
Pathogenic	2011-01-04	no assertion criteria provided	gastrointestinal stromal tumor	germline	Detail
Likely pathogenic		no assertion criteria provided	Carney triad	germline	Detail
Likely pathogenic		no assertion criteria provided	Hereditary pheochromocytoma-paraganglioma	germline	Detail
Pathogenic	2019-08-20	criteria provided, single submitter	Paragangliomas 3,gastrointestinal stromal tumor	germline	Detail
Pathogenic	2019-08-20	criteria provided, single submitter	Paragangliomas 3,gastrointestinal stromal tumor	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.240	Paragangliomas 3	NA	CLINVAR		Detail
0.360	PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA	NA	CLINVAR		Detail
0.121	Carney triad	NA	CLINVAR		Detail
0.245	Gastrointestinal Stromal Tumors	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_003001.5(SDHC):c.405+1G>A AND Carney-Stratakis syndrome	ClinVar	Detail
NM_003001.5(SDHC):c.405+1G>A AND Gastrointestinal stromal tumor	ClinVar	Detail
NM_003001.5(SDHC):c.405+1G>A AND Carney triad	ClinVar	Detail
NM_003001.5(SDHC):c.405+1G>A AND Hereditary pheochromocytoma-paraganglioma	ClinVar	Detail
NM_003001.5(SDHC):c.405+1G>A AND multiple conditions	ClinVar	Detail
NM_003001.5(SDHC):c.405+1G>A AND multiple conditions	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs587776653 dbSNP
Genome: hg19
Position: chr1:161,326,631-161,326,631
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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