chr3:193377336:C>G Detail (hg19) (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	chr3:193,377,336-193,377,336
hg38	chr3:193,659,547-193,659,547 View the variant detail on this assembly version.

HGVS

OPA1

Type	Transcript	Protein
RefSeq	NM_130831.2:c.2344C>G	NP_570844.1:p.Arg782Gly
	NM_130833.2:c.2344C>G	NP_570846.1:p.Arg782Gly
	NM_130837.2:c.2506C>G	NP_570850.2:p.Arg836Gly
	NM_130835.2:c.2398C>G	NP_570848.1:p.Arg800Gly
	NM_130832.2:c.2341C>G	NP_570845.1:p.Arg781Gly
	NM_130834.2:c.2341C>G	NP_570847.2:p.Arg781Gly
	NM_130836.2:c.2452C>G	NP_570849.2:p.Arg818Gly
Ensemble	ENST00000361150.6:c.2344C>G	ENST00000361150.6:p.Arg782Gly
	ENST00000361510.8:c.2506C>G	ENST00000361510.8:p.Arg836Gly
	ENST00000361715.6:c.2398C>G	ENST00000361715.6:p.Arg800Gly
	ENST00000361828.7:c.2341C>G	ENST00000361828.7:p.Arg781Gly
	ENST00000361908.8:c.2452C>G	ENST00000361908.8:p.Arg818Gly
	ENST00000392436.7:c.2341C>G	ENST00000392436.7:p.Arg781Gly
	ENST00000392437.6:c.2395C>G	ENST00000392437.6:p.Arg799Gly
	ENST00000643329.1:c.2023C>G	ENST00000643329.1:p.Arg675Gly
	ENST00000645553.1:c.2356C>G	ENST00000645553.1:p.Arg786Gly
	ENST00000646793.1:c.2233C>G	ENST00000646793.1:p.Arg745Gly

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
Review star	[No Data.]
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

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.526	Optic Atrophy, Autosomal Dominant	The eOPA1 locus-specific database now contains a total of 204 OPA1 mutations, in...	UNIPROT	19319978	Detail

Annotation

Annotations

Descrption	Source	Links
The eOPA1 locus-specific database now contains a total of 204 OPA1 mutations, including 77 novel OPA...	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: -
Genome: hg19
Position: chr3:193,377,336-193,377,336
Variant Type: snv
Reference Allele: C
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 7206
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): 97646
Allele Counts in All Race (ExAC): 3
Heterozygous Counts in All Race (ExAC): 3
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.0723224709665525E-5

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