chr3:193648109:A>G Detail (hg38) (OPA1)

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

Genome

Assembly	Position
hg19	chr3:193,365,898-193,365,898 View the variant detail on this assembly version.
hg38	chr3:193,648,109-193,648,109

HGVS

OPA1

Type	Transcript	Protein
RefSeq	NM_130831.2:c.1748A>G	NP_570844.1:p.Tyr583Cys
	NM_130833.2:c.1748A>G	NP_570846.1:p.Tyr583Cys
	NM_130837.2:c.1910A>G	NP_570850.2:p.Tyr637Cys
	NM_130835.2:c.1802A>G	NP_570848.1:p.Tyr601Cys
	NM_130832.2:c.1745A>G	NP_570845.1:p.Tyr582Cys
	NM_130834.2:c.1745A>G	NP_570847.2:p.Tyr582Cys
	NM_130836.2:c.1856A>G	NP_570849.2:p.Tyr619Cys
Ensemble	ENST00000361150.6:c.1748A>G	ENST00000361150.6:p.Tyr583Cys
	ENST00000361510.8:c.1910A>G	ENST00000361510.8:p.Tyr637Cys
	ENST00000361715.6:c.1802A>G	ENST00000361715.6:p.Tyr601Cys
	ENST00000361828.7:c.1745A>G	ENST00000361828.7:p.Tyr582Cys
	ENST00000361908.8:c.1856A>G	ENST00000361908.8:p.Tyr619Cys
	ENST00000392436.7:c.1745A>G	ENST00000392436.7:p.Tyr582Cys
	ENST00000392437.6:c.1799A>G	ENST00000392437.6:p.Tyr600Cys
	ENST00000643329.1:c.1427A>G	ENST00000643329.1:p.Tyr476Cys
	ENST00000645553.1:c.1760A>G	ENST00000645553.1:p.Tyr587Cys
	ENST00000646793.1:c.1637A>G	ENST00000646793.1:p.Tyr546Cys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2008-01-01	no assertion criteria provided	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.240	OPTIC ATROPHY 1 AND DEAFNESS	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_130837.3(OPA1):c.1910A>G (p.Tyr637Cys) AND Optic atrophy with or without deafness, ophthalmoplegi...	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: rs121908376 dbSNP
Genome: hg38
Position: chr3:193,648,109-193,648,109
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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