chr3:193644014: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	chr3:193,361,803-193,361,803
hg38	chr3:193,644,014-193,644,014

HGVS

OPA1

Type	Transcript	Protein
RefSeq	NM_130831.2:c.1355delT	NP_570844.1:p.Leu452TrpfsTer16
	NM_130833.2:c.1355delT	NP_570846.1:p.Leu452TrpfsTer16
	NM_130837.2:c.1517delT	NP_570850.2:p.Leu506TrpfsTer16
	NM_130835.2:c.1409delT	NP_570848.1:p.Leu470TrpfsTer16
	NM_130832.2:c.1352delT	NP_570845.1:p.Leu451TrpfsTer16
	NM_130834.2:c.1352delT	NP_570847.2:p.Leu451TrpfsTer16
	NM_130836.2:c.1463delT	NP_570849.2:p.Leu488TrpfsTer16
Ensemble	ENST00000361150.6:c.1355delT	ENST00000361150.6:p.Leu452TrpfsTer16
	ENST00000361510.8:c.1517delT	ENST00000361510.8:p.Leu506TrpfsTer16
	ENST00000361715.6:c.1409delT	ENST00000361715.6:p.Leu470TrpfsTer16
	ENST00000361828.7:c.1352delT	ENST00000361828.7:p.Leu451TrpfsTer16
	ENST00000361908.8:c.1463delT	ENST00000361908.8:p.Leu488TrpfsTer16
	ENST00000392436.7:c.1352delT	ENST00000392436.7:p.Leu451TrpfsTer16
	ENST00000392437.6:c.1406delT	ENST00000392437.6:p.Leu469TrpfsTer16
	ENST00000643329.1:c.1034delT	ENST00000643329.1:p.Leu345TrpfsTer16
	ENST00000645553.1:c.1367delT	ENST00000645553.1:p.Leu456TrpfsTer16
	ENST00000646793.1:c.1244delT	ENST00000646793.1:p.Leu415TrpfsTer16

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	2013-01-25	criteria provided, single submitter	not provided	germline	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.1517del (p.Leu506fs) 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: rs398124297 dbSNP
Genome: hg38
Position: chr3:193,644,014-193,644,014
Variant Type: snv
Reference Allele: T
Alternative Allele: -

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