chr3:193638064:A>C Detail (hg38) (OPA1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr3:193,355,853-193,355,853 View the variant detail on this assembly version.
hg38	chr3:193,638,064-193,638,064

HGVS

OPA1

Type	Transcript	Protein
RefSeq	NM_130831.2:c.986A>C	NP_570844.1:p.Lys329Thr
	NM_130833.2:c.986A>C	NP_570846.1:p.Lys329Thr
	NM_130837.2:c.1148A>C	NP_570850.2:p.Lys383Thr
	NM_130835.2:c.1040A>C	NP_570848.1:p.Lys347Thr
	NM_130832.2:c.983A>C	NP_570845.1:p.Lys328Thr
	NM_130834.2:c.983A>C	NP_570847.2:p.Lys328Thr
	NM_130836.2:c.1094A>C	NP_570849.2:p.Lys365Thr
Ensemble	ENST00000361150.6:c.986A>C	ENST00000361150.6:p.Lys329Thr
	ENST00000361510.8:c.1148A>C	ENST00000361510.8:p.Lys383Thr
	ENST00000361715.6:c.1040A>C	ENST00000361715.6:p.Lys347Thr
	ENST00000361828.7:c.983A>C	ENST00000361828.7:p.Lys328Thr
	ENST00000361908.8:c.1094A>C	ENST00000361908.8:p.Lys365Thr
	ENST00000392436.7:c.983A>C	ENST00000392436.7:p.Lys328Thr
	ENST00000392437.6:c.1037A>C	ENST00000392437.6:p.Lys346Thr
	ENST00000643329.1:c.665A>C	ENST00000643329.1:p.Lys222Thr
	ENST00000645553.1:c.998A>C	ENST00000645553.1:p.Lys333Thr
	ENST00000646793.1:c.875A>C	ENST00000646793.1:p.Lys292Thr

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	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
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: -
Genome: hg38
Position: chr3:193,638,064-193,638,064
Variant Type: snv
Reference Allele: A
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8476
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): 117926
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): 8.479894170920747E-6

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