chr3:193409916:A>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	chr3:193,409,916-193,409,916
hg38	chr3:193,692,127-193,692,127 View the variant detail on this assembly version.

HGVS

OPA1

Type	Transcript	Protein
RefSeq	NM_130831.2:c.2886A>G	NP_570844.1:p.Ter962=
	NM_130833.2:c.2886A>G	NP_570846.1:p.Ter962=
	NM_130837.2:c.3048A>G	NP_570850.2:p.Ter1016=
	NM_130835.2:c.2940A>G	NP_570848.1:p.Ter980=
	NM_130832.2:c.2883A>G	NP_570845.1:p.Ter961=
	NM_130834.2:c.2883A>G	NP_570847.2:p.Ter961=
	NM_130836.2:c.2994A>G	NP_570849.2:p.Ter998=
Ensemble	ENST00000361150.6:c.2886A>G	ENST00000361150.6:p.Ter962=
	ENST00000361510.8:c.3048A>G	ENST00000361510.8:p.Ter1016=
	ENST00000361715.6:c.2940A>G	ENST00000361715.6:p.Ter980=
	ENST00000361828.7:c.2883A>G	ENST00000361828.7:p.Ter961=
	ENST00000361908.8:c.2994A>G	ENST00000361908.8:p.Ter998=
	ENST00000392437.6:c.2937A>G	ENST00000392437.6:p.Ter979=
	ENST00000643329.1:c.2565A>G	ENST00000643329.1:p.Ter855=
	ENST00000645553.1:c.2898A>G	ENST00000645553.1:p.Ter966=
	ENST00000646793.1:c.2775A>G	ENST00000646793.1:p.Ter925=

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	Likely benign
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
Likely benign	2023-11-25	criteria provided, single submitter	not provided	germline	Detail
Likely benign	2019-08-02	criteria provided, single submitter	OPA1-related disorder	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.3048A>G (p.Ter1016=) AND not provided	ClinVar	Detail
NM_130837.3(OPA1):c.3048A>G (p.Ter1016=) AND OPA1-related disorder	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: rs143929819 dbSNP
Genome: hg19
Position: chr3:193,409,916-193,409,916
Variant Type: snv
Reference Allele: A
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 1586
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 6.305170239596469E-4
Chromosome Counts in All Race (ExAC): 29476
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): 3.392590582168544E-5

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