chr3:193692070:T> 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	chr3:193,409,859-193,409,859
hg38	chr3:193,692,070-193,692,070

HGVS

OPA1

Type	Transcript	Protein
RefSeq	NM_130831.2:c.2829delT	NP_570844.1:p.Arg944GlufsTer25
	NM_130833.2:c.2829delT	NP_570846.1:p.Arg944GlufsTer25
	NM_130837.2:c.2991delT	NP_570850.2:p.Arg998GlufsTer25
	NM_130835.2:c.2883delT	NP_570848.1:p.Arg962GlufsTer25
	NM_130832.2:c.2826delT	NP_570845.1:p.Arg943GlufsTer25
	NM_130834.2:c.2826delT	NP_570847.2:p.Arg943GlufsTer25
	NM_130836.2:c.2937delT	NP_570849.2:p.Arg980GlufsTer25
Ensemble	ENST00000361150.6:c.2829delT	ENST00000361150.6:p.Arg944GlufsTer25
	ENST00000361510.8:c.2991delT	ENST00000361510.8:p.Arg998GlufsTer25
	ENST00000361715.6:c.2883delT	ENST00000361715.6:p.Arg962GlufsTer25
	ENST00000361828.7:c.2826delT	ENST00000361828.7:p.Arg943GlufsTer25
	ENST00000361908.8:c.2937delT	ENST00000361908.8:p.Arg980GlufsTer25
	ENST00000392437.6:c.2880delT	ENST00000392437.6:p.Arg961GlufsTer25
	ENST00000643329.1:c.2508delT	ENST00000643329.1:p.Arg837GlufsTer25
	ENST00000645553.1:c.2841delT	ENST00000645553.1:p.Arg948GlufsTer25
	ENST00000646793.1:c.2718delT	ENST00000646793.1:p.Arg907GlufsTer25

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	2001-11-01	no assertion criteria provided	Autosomal dominant optic atrophy classic form	germline unknown	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.2991del (p.Arg998fs) AND Autosomal dominant optic atrophy classic form	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: rs80356531 dbSNP
Genome: hg38
Position: chr3:193,692,070-193,692,070
Variant Type: snv
Reference Allele: T
Alternative Allele: -

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