chr3:193643419:T>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	chr3:193,361,208-193,361,208 View the variant detail on this assembly version.
hg38	chr3:193,643,419-193,643,419

HGVS

OPA1

Type	Transcript	Protein
RefSeq	NM_130831.2:c.1190T>A	NP_570844.1:p.Leu397His
	NM_130833.2:c.1190T>A	NP_570846.1:p.Leu397His
	NM_130837.2:c.1352T>A	NP_570850.2:p.Leu451His
	NM_130835.2:c.1244T>A	NP_570848.1:p.Leu415His
	NM_130832.2:c.1187T>A	NP_570845.1:p.Leu396His
	NM_130834.2:c.1187T>A	NP_570847.2:p.Leu396His
	NM_130836.2:c.1298T>A	NP_570849.2:p.Leu433His
Ensemble	ENST00000361150.6:c.1190T>A	ENST00000361150.6:p.Leu397His
	ENST00000361510.8:c.1352T>A	ENST00000361510.8:p.Leu451His
	ENST00000361715.6:c.1244T>A	ENST00000361715.6:p.Leu415His
	ENST00000361828.7:c.1187T>A	ENST00000361828.7:p.Leu396His
	ENST00000361908.8:c.1298T>A	ENST00000361908.8:p.Leu433His
	ENST00000392436.7:c.1187T>A	ENST00000392436.7:p.Leu396His
	ENST00000392437.6:c.1241T>A	ENST00000392437.6:p.Leu414His
	ENST00000643329.1:c.869T>A	ENST00000643329.1:p.Leu290His
	ENST00000645553.1:c.1202T>A	ENST00000645553.1:p.Leu401His
	ENST00000646793.1:c.1079T>A	ENST00000646793.1:p.Leu360His

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	2012-05-29	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.1352T>A (p.Leu451His) 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: rs727504060 dbSNP
Genome: hg38
Position: chr3:193,643,419-193,643,419
Variant Type: snv
Reference Allele: T
Alternative Allele: A

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