chr3:193631622:AA> 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	chr3:193,349,411-193,349,412
hg38	chr3:193,631,622-193,631,623

HGVS

OPA1

Type	Transcript	Protein
RefSeq	NM_130831.2:c.638_639delAA	NP_570844.1:p.Lys213ArgfsTer4
	NM_130833.2:c.638_639delAA	NP_570846.1:p.Lys213ArgfsTer4
	NM_130837.2:c.800_801delAA	NP_570850.2:p.Lys267ArgfsTer4
	NM_130835.2:c.692_693delAA	NP_570848.1:p.Lys231ArgfsTer4
	NM_130832.2:c.635_636delAA	NP_570845.1:p.Lys212ArgfsTer4
	NM_130834.2:c.635_636delAA	NP_570847.2:p.Lys212ArgfsTer4
	NM_130836.2:c.746_747delAA	NP_570849.2:p.Lys249ArgfsTer4
Ensemble	ENST00000361150.6:c.638_639delAA	ENST00000361150.6:p.Lys213ArgfsTer4
	ENST00000361510.8:c.800_801delAA	ENST00000361510.8:p.Lys267ArgfsTer4
	ENST00000361715.6:c.692_693delAA	ENST00000361715.6:p.Lys231ArgfsTer4
	ENST00000361828.7:c.635_636delAA	ENST00000361828.7:p.Lys212ArgfsTer4
	ENST00000361908.8:c.746_747delAA	ENST00000361908.8:p.Lys249ArgfsTer4
	ENST00000392436.7:c.635_636delAA	ENST00000392436.7:p.Lys212ArgfsTer4
	ENST00000392437.6:c.689_690delAA	ENST00000392437.6:p.Lys230ArgfsTer4
	ENST00000643329.1:c.317_318delAA	ENST00000643329.1:p.Lys106ArgfsTer4
	ENST00000645553.1:c.635_636delAA	ENST00000645553.1:p.Lys212ArgfsTer4
	ENST00000646793.1:c.527_528delAA	ENST00000646793.1:p.Lys176ArgfsTer4

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

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	2023-12-07	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2022-12-01	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Pathogenic	2021-11-29	criteria provided, single submitter	Autosomal dominant optic atrophy classic form	germline	Detail
Pathogenic	2022-01-01	criteria provided, single submitter	Stargardt disease	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.800_801del (p.Lys267fs) AND not provided	ClinVar	Detail
NM_130837.3(OPA1):c.800_801del (p.Lys267fs) AND Inborn genetic diseases	ClinVar	Detail
NM_130837.3(OPA1):c.800_801del (p.Lys267fs) AND Autosomal dominant optic atrophy classic form	ClinVar	Detail
NM_130837.3(OPA1):c.800_801del (p.Lys267fs) AND Stargardt disease	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: rs794727804 dbSNP
Genome: hg38
Position: chr3:193,631,622-193,631,623
Variant Type: snv
Reference Allele: AA
Alternative Allele: -
East Asian Chromosome Counts (ExAC): 8638
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 120600
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.291873963515755E-6

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