chr3:193644008:C> 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	chr3:193,361,797-193,361,797
hg38	chr3:193,644,008-193,644,008

HGVS

OPA1

Type	Transcript	Protein
RefSeq	NM_130831.2:c.1349delC	NP_570844.1:p.Thr450LysfsTer18
	NM_130833.2:c.1349delC	NP_570846.1:p.Thr450LysfsTer18
	NM_130837.2:c.1511delC	NP_570850.2:p.Thr504LysfsTer18
	NM_130835.2:c.1403delC	NP_570848.1:p.Thr468LysfsTer18
	NM_130832.2:c.1346delC	NP_570845.1:p.Thr449LysfsTer18
	NM_130834.2:c.1346delC	NP_570847.2:p.Thr449LysfsTer18
	NM_130836.2:c.1457delC	NP_570849.2:p.Thr486LysfsTer18
Ensemble	ENST00000361150.6:c.1349delC	ENST00000361150.6:p.Thr450LysfsTer18
	ENST00000361510.8:c.1511delC	ENST00000361510.8:p.Thr504LysfsTer18
	ENST00000361715.6:c.1403delC	ENST00000361715.6:p.Thr468LysfsTer18
	ENST00000361828.7:c.1346delC	ENST00000361828.7:p.Thr449LysfsTer18
	ENST00000361908.8:c.1457delC	ENST00000361908.8:p.Thr486LysfsTer18
	ENST00000392436.7:c.1346delC	ENST00000392436.7:p.Thr449LysfsTer18
	ENST00000392437.6:c.1400delC	ENST00000392437.6:p.Thr467LysfsTer18
	ENST00000643329.1:c.1028delC	ENST00000643329.1:p.Thr343LysfsTer18
	ENST00000645553.1:c.1361delC	ENST00000645553.1:p.Thr454LysfsTer18
	ENST00000646793.1:c.1238delC	ENST00000646793.1:p.Thr413LysfsTer18

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely 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
Likely pathogenic	2012-04-18	no assertion criteria provided	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	unknown	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.1511del (p.Thr504fs) AND Optic atrophy with or without deafness, ophthalmoplegia...	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: rs794729196 dbSNP
Genome: hg38
Position: chr3:193,644,008-193,644,008
Variant Type: snv
Reference Allele: C
Alternative Allele: -

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