chr3:193647110:C>A Detail (hg38) (OPA1, LOC126806913)

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

Information

Genome

Assembly	Position
hg19	chr3:193,364,899-193,364,899 View the variant detail on this assembly version.
hg38	chr3:193,647,110-193,647,110

HGVS

OPA1

Type	Transcript	Protein
RefSeq	NM_130831.2:c.1638C>A	NP_570844.1:p.Ser546Arg
	NM_130833.2:c.1638C>A	NP_570846.1:p.Ser546Arg
	NM_130837.2:c.1800C>A	NP_570850.2:p.Ser600Arg
	NM_130835.2:c.1692C>A	NP_570848.1:p.Ser564Arg
	NM_130832.2:c.1635C>A	NP_570845.1:p.Ser545Arg
	NM_130834.2:c.1635C>A	NP_570847.2:p.Ser545Arg
	NM_130836.2:c.1746C>A	NP_570849.2:p.Ser582Arg
Ensemble	ENST00000361150.6:c.1638C>A	ENST00000361150.6:p.Ser546Arg
	ENST00000361510.8:c.1800C>A	ENST00000361510.8:p.Ser600Arg
	ENST00000361715.6:c.1692C>A	ENST00000361715.6:p.Ser564Arg
	ENST00000361828.7:c.1635C>A	ENST00000361828.7:p.Ser545Arg
	ENST00000361908.8:c.1746C>A	ENST00000361908.8:p.Ser582Arg
	ENST00000392436.7:c.1635C>A	ENST00000392436.7:p.Ser545Arg
	ENST00000392437.6:c.1689C>A	ENST00000392437.6:p.Ser563Arg
	ENST00000643329.1:c.1317C>A	ENST00000643329.1:p.Ser439Arg
	ENST00000645553.1:c.1650C>A	ENST00000645553.1:p.Ser550Arg
	ENST00000646793.1:c.1527C>A	ENST00000646793.1:p.Ser509Arg

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

Links

OPA1

Type	Database	ID	Link
Gene	MIM	605290	OMIM
	HGNC	8140	HGNC
	Ensembl	ENSG00000198836	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		optic atrophy	germline	MGS000082 (TMGS000165)	Kenjiro Kosaki Kenjiro Kosaki	Keio University Mutation View

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2012-12-28	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2024-02-15	criteria provided, single submitter	OPA1-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.526	Optic Atrophy, Autosomal Dominant	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_130837.3(OPA1):c.1800C>A (p.Ser600Arg) AND not provided	ClinVar	Detail
NM_130837.3(OPA1):c.1800C>A (p.Ser600Arg) AND OPA1-related disorder	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: rs398124298 dbSNP
Genome: hg38
Position: chr3:193,647,110-193,647,110
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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