chr3:193637280:G>A 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	chr3:193,355,069-193,355,069 View the variant detail on this assembly version.
hg38	chr3:193,637,280-193,637,280

HGVS

OPA1

Type	Transcript	Protein
RefSeq	NM_130831.2:c.872G>A	NP_570844.1:p.Arg291Gln
	NM_130833.2:c.872G>A	NP_570846.1:p.Arg291Gln
	NM_130837.2:c.1034G>A	NP_570850.2:p.Arg345Gln
	NM_130835.2:c.926G>A	NP_570848.1:p.Arg309Gln
	NM_130832.2:c.869G>A	NP_570845.1:p.Arg290Gln
	NM_130834.2:c.869G>A	NP_570847.2:p.Arg290Gln
	NM_130836.2:c.980G>A	NP_570849.2:p.Arg327Gln
Ensemble	ENST00000361150.6:c.872G>A	ENST00000361150.6:p.Arg291Gln
	ENST00000361510.8:c.1034G>A	ENST00000361510.8:p.Arg345Gln
	ENST00000361715.6:c.926G>A	ENST00000361715.6:p.Arg309Gln
	ENST00000361828.7:c.869G>A	ENST00000361828.7:p.Arg290Gln
	ENST00000361908.8:c.980G>A	ENST00000361908.8:p.Arg327Gln
	ENST00000392436.7:c.869G>A	ENST00000392436.7:p.Arg290Gln
	ENST00000392437.6:c.923G>A	ENST00000392437.6:p.Arg308Gln
	ENST00000643329.1:c.551G>A	ENST00000643329.1:p.Arg184Gln
	ENST00000645553.1:c.884G>A	ENST00000645553.1:p.Arg295Gln
	ENST00000646793.1:c.761G>A	ENST00000646793.1:p.Arg254Gln

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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	2022-06-21	criteria provided, multiple submitters, no conflicts	Autosomal dominant optic atrophy classic form	germline unknown	Detail
Pathogenic Likely pathogenic	2023-10-03	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Likely pathogenic	2018-07-18	criteria provided, single submitter	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	maternal	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.1034G>A (p.Arg345Gln) AND Autosomal dominant optic atrophy classic form	ClinVar	Detail
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln) AND not provided	ClinVar	Detail
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln) 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: rs121908375 dbSNP
Genome: hg38
Position: chr3:193,637,280-193,637,280
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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