chr1:161326622:C>T Detail (hg19) (SDHC)

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

Information

Genome

Assembly	Position
hg19	chr1:161,326,622-161,326,622
hg38	chr1:161,356,832-161,356,832 View the variant detail on this assembly version.

HGVS

SDHC

Type	Transcript	Protein
RefSeq	NM_001035511.1:c.242-5497C>T
	NM_001035512.1:c.295C>T	NP_001030589.1:p.Arg99Ter
	NM_001035513.1:c.238C>T	NP_001030590.1:p.Arg80Ter
	NM_001278172.1:c.140-5497C>T
	NM_003001.3:c.397C>T	NP_002992.1:p.Arg133Ter
Ensemble	ENST00000342751.8:c.242-5497C>T
	ENST00000432287.6:c.295C>T	ENST00000432287.6:p.Arg99Ter
	ENST00000714066.1:c.286C>T	ENST00000714066.1:p.Arg96Ter
	ENST00000392169.6:c.238C>T	ENST00000392169.6:p.Arg80Ter
	ENST00000714065.1:c.286C>T	ENST00000714065.1:p.Arg96Ter
	ENST00000513009.5:c.140-5497C>T
	ENST00000714064.1:c.286C>T	ENST00000714064.1:p.Arg96Ter
	ENST00000367975.7:c.397C>T	ENST00000367975.7:p.Arg133Ter
	ENST00000714063.1:c.427C>T	ENST00000714063.1:p.Arg143Ter
	ENST00000515731.2:c.131-5497C>T

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

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	2023-01-10	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2024-01-24	criteria provided, single submitter	gastrointestinal stromal tumor,Paragangliomas 3	germline	Detail
Pathogenic	2024-01-24	criteria provided, single submitter	gastrointestinal stromal tumor,Paragangliomas 3	germline	Detail
Pathogenic	2023-03-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2024-02-05	criteria provided, multiple submitters, no conflicts	Hereditary pheochromocytoma-paraganglioma	germline	Detail
Pathogenic	2024-02-08	criteria provided, multiple submitters, no conflicts	Paragangliomas 3	germline unknown	Detail
Pathogenic	2019-08-17	criteria provided, single submitter	Carney-Stratakis syndrome	unknown	Detail
Pathogenic	2021-08-19	criteria provided, single submitter	Paragangliomas 3,gastrointestinal stromal tumor,Carney-Stratakis syndrome	unknown	Detail
Pathogenic	2021-08-19	criteria provided, single submitter	Paragangliomas 3,gastrointestinal stromal tumor,Carney-Stratakis syndrome	unknown	Detail
Pathogenic	2021-08-19	criteria provided, single submitter	Paragangliomas 3,gastrointestinal stromal tumor,Carney-Stratakis syndrome	unknown	Detail
Pathogenic	2023-09-21	criteria provided, single submitter	gastrointestinal stromal tumor	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.397C>T (p.Arg133Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) AND multiple conditions	ClinVar	Detail
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) AND multiple conditions	ClinVar	Detail
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) AND not provided	ClinVar	Detail
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) AND Hereditary pheochromocytoma-paraganglioma	ClinVar	Detail
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) AND Paragangliomas 3	ClinVar	Detail
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) AND Carney-Stratakis syndrome	ClinVar	Detail
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) AND multiple conditions	ClinVar	Detail
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) AND multiple conditions	ClinVar	Detail
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) AND multiple conditions	ClinVar	Detail
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) AND Gastrointestinal stromal tumor	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: rs764575966 dbSNP
Genome: hg19
Position: chr1:161,326,622-161,326,622
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8654
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121402
Allele Counts in All Race (ExAC): 3
Heterozygous Counts in All Race (ExAC): 3
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.4711289764583778E-5

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