chr1:161356841:G>T Detail (hg38) (SDHC)

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

Information

Genome

Assembly	Position
hg19	chr1:161,326,631-161,326,631 View the variant detail on this assembly version.
hg38	chr1:161,356,841-161,356,841

HGVS

SDHC

Type	Transcript	Protein
RefSeq	NM_001035511.1:c.242-5488G>T
	NM_003001.3:c.405+1G>T
	NM_001035513.1:c.246+1G>T
	NM_001035512.1:c.303+1G>T
	NM_001278172.1:c.140-5488G>T
Ensemble	ENST00000342751.8:c.242-5488G>T
	ENST00000367975.7:c.405+1G>T
	ENST00000392169.6:c.246+1G>T
	ENST00000432287.6:c.303+1G>T
	ENST00000513009.5:c.140-5488G>T
	ENST00000515731.2:c.131-5488G>T
	ENST00000714063.1:c.435+1G>T
	ENST00000714064.1:c.294+1G>T
	ENST00000714065.1:c.294+1G>T
	ENST00000714066.1:c.294+1G>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 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		criteria provided, single submitter	Paragangliomas 3	germline	Detail
Pathogenic	2023-12-28	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-12-31	criteria provided, single submitter	gastrointestinal stromal tumor,Paragangliomas 3	germline	Detail
Pathogenic	2023-12-31	criteria provided, single submitter	gastrointestinal stromal tumor,Paragangliomas 3	germline	Detail
Likely pathogenic	2024-03-01	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2024-01-05	criteria provided, single submitter	Hereditary pheochromocytoma-paraganglioma	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>T AND Paragangliomas 3	ClinVar	Detail
NM_003001.5(SDHC):c.405+1G>T AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_003001.5(SDHC):c.405+1G>T AND multiple conditions	ClinVar	Detail
NM_003001.5(SDHC):c.405+1G>T AND multiple conditions	ClinVar	Detail
NM_003001.5(SDHC):c.405+1G>T AND not provided	ClinVar	Detail
NM_003001.5(SDHC):c.405+1G>T AND Hereditary pheochromocytoma-paraganglioma	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: hg38
Position: chr1:161,356,841-161,356,841
Variant Type: snv
Reference Allele: G
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): 121396
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.237503706876667E-6

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