chr3:193361767:G>T Detail (hg19) (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	chr3:193,361,767-193,361,767
hg38	chr3:193,643,978-193,643,978 View the variant detail on this assembly version.

HGVS

OPA1

Type	Transcript	Protein
RefSeq	NM_130831.2:c.1319G>T	NP_570844.1:p.Gly440Val
	NM_130833.2:c.1319G>T	NP_570846.1:p.Gly440Val
	NM_130837.2:c.1481G>T	NP_570850.2:p.Gly494Val
	NM_130835.2:c.1373G>T	NP_570848.1:p.Gly458Val
	NM_130832.2:c.1316G>T	NP_570845.1:p.Gly439Val
	NM_130834.2:c.1316G>T	NP_570847.2:p.Gly439Val
	NM_130836.2:c.1427G>T	NP_570849.2:p.Gly476Val
Ensemble	ENST00000361150.6:c.1319G>T	ENST00000361150.6:p.Gly440Val
	ENST00000361510.8:c.1481G>T	ENST00000361510.8:p.Gly494Val
	ENST00000361715.6:c.1373G>T	ENST00000361715.6:p.Gly458Val
	ENST00000361828.7:c.1316G>T	ENST00000361828.7:p.Gly439Val
	ENST00000361908.8:c.1427G>T	ENST00000361908.8:p.Gly476Val
	ENST00000392436.7:c.1316G>T	ENST00000392436.7:p.Gly439Val
	ENST00000392437.6:c.1370G>T	ENST00000392437.6:p.Gly457Val
	ENST00000643329.1:c.998G>T	ENST00000643329.1:p.Gly333Val
	ENST00000645553.1:c.1331G>T	ENST00000645553.1:p.Gly444Val
	ENST00000646793.1:c.1208G>T	ENST00000646793.1:p.Gly403Val

Summary

MGeND

Clinical significance
Variant entry
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

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2008-02-01	no assertion criteria provided	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	germline	Detail
Pathogenic	2021-09-29	criteria provided, single submitter	not provided	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.1481G>T (p.Gly494Val) AND Optic atrophy with or without deafness, ophthalmoplegi...	ClinVar	Detail
NM_130837.3(OPA1):c.1481G>T (p.Gly494Val) AND not provided	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: rs387906900 dbSNP
Genome: hg19
Position: chr3:193,361,767-193,361,767
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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