chr1:161356815:A>G Detail (hg38) (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	chr1:161,326,605-161,326,605 View the variant detail on this assembly version.
hg38	chr1:161,356,815-161,356,815

HGVS

SDHC

Type	Transcript	Protein
RefSeq	NM_001035511.1:c.242-5514A>G
	NM_003001.3:c.380A>G	NP_002992.1:p.His127Arg
	NM_001035513.1:c.221A>G	NP_001030590.1:p.His74Arg
	NM_001035512.1:c.278A>G	NP_001030589.1:p.His93Arg
	NM_001278172.1:c.140-5514A>G
Ensemble	ENST00000342751.8:c.242-5514A>G
	ENST00000367975.7:c.380A>G	ENST00000367975.7:p.His127Arg
	ENST00000392169.6:c.221A>G	ENST00000392169.6:p.His74Arg
	ENST00000432287.6:c.278A>G	ENST00000432287.6:p.His93Arg
	ENST00000513009.5:c.140-5514A>G
	ENST00000515731.2:c.131-5514A>G
	ENST00000714063.1:c.410A>G	ENST00000714063.1:p.His137Arg
	ENST00000714064.1:c.269A>G	ENST00000714064.1:p.His90Arg
	ENST00000714065.1:c.269A>G	ENST00000714065.1:p.His90Arg
	ENST00000714066.1:c.269A>G	ENST00000714066.1:p.His90Arg

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
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	2021-05-27	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic	2022-12-03	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2024-01-16	criteria provided, single submitter	Paragangliomas 3,gastrointestinal stromal tumor	germline	Detail
Pathogenic	2024-01-16	criteria provided, single submitter	Paragangliomas 3,gastrointestinal stromal tumor	germline	Detail
Pathogenic Likely pathogenic	2023-10-06	criteria provided, multiple submitters, no conflicts	gastrointestinal stromal tumor	germline unknown	Detail
Likely pathogenic	2023-10-02	criteria provided, multiple submitters, no conflicts	Hereditary pheochromocytoma-paraganglioma	germline	Detail
Likely pathogenic	2024-02-08	criteria provided, multiple submitters, no conflicts	Paragangliomas 3	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_003001.5(SDHC):c.380A>G (p.His127Arg) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_003001.5(SDHC):c.380A>G (p.His127Arg) AND not provided	ClinVar	Detail
NM_003001.5(SDHC):c.380A>G (p.His127Arg) AND multiple conditions	ClinVar	Detail
NM_003001.5(SDHC):c.380A>G (p.His127Arg) AND multiple conditions	ClinVar	Detail
NM_003001.5(SDHC):c.380A>G (p.His127Arg) AND Gastrointestinal stromal tumor	ClinVar	Detail
NM_003001.5(SDHC):c.380A>G (p.His127Arg) AND Hereditary pheochromocytoma-paraganglioma	ClinVar	Detail
NM_003001.5(SDHC):c.380A>G (p.His127Arg) AND Paragangliomas 3	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: rs786203457 dbSNP
Genome: hg38
Position: chr1:161,356,815-161,356,815
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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