chr3:193643996:G>A Detail (hg38) (OPA1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:193,361,785-193,361,785 View the variant detail on this assembly version. |
hg38 | chr3:193,643,996-193,643,996 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_130831.2:c.1337G>A | NP_570844.1:p.Arg446His |
NM_130833.2:c.1337G>A | NP_570846.1:p.Arg446His | |
NM_130837.2:c.1499G>A | NP_570850.2:p.Arg500His |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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optic atrophy |
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MGS000082
(TMGS000165) |
Kenjiro Kosaki Kenjiro Kosaki |
Keio University Mutation View |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2008-11-25 | no assertion criteria provided | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy |
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Detail |
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2023-04-16 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2017-04-07 | no assertion criteria provided | Mitochondrial disease |
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Detail |
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2024-03-14 | criteria provided, multiple submitters, no conflicts | Autosomal dominant optic atrophy classic form |
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Detail |
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2023-12-01 | criteria provided, single submitter | OPA1-related disorder |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.240 | OPTIC ATROPHY 1 AND DEAFNESS | NA | CLINVAR | Detail | |
0.526 | Optic Atrophy, Autosomal Dominant | NA | CLINVAR | Detail | |
0.017 | Sensorineural Hearing Loss (disorder) | Importantly, our data provide the first evidence that a single, recurrent mutati... | BeFree | 21538838 | Detail |
0.004 | Sensorineural Hearing Loss (disorder) | Importantly, our data provide the first evidence that a single, recurrent mutati... | BeFree | 21538838 | Detail |
0.006 | ophthalmoplegia | We previously described a unique syndrome of optic atrophy, sensorineural hearin... | BeFree | 16158427 | Detail |
0.004 | Sensorineural Hearing Loss (disorder) | Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1... | BeFree | 16158427 | Detail |
0.034 | optic atrophy | OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. | BeFree | 16240368 | Detail |
0.004 | Sensorineural Hearing Loss (disorder) | OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. | BeFree | 16240368 | Detail |
0.526 | Optic Atrophy, Autosomal Dominant | The association of autosomal dominant optic atrophy and moderate deafness may be... | BeFree | 14644237 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_130837.3(OPA1):c.1499G>A (p.Arg500His) AND Optic atrophy with or without deafness, ophthalmoplegi... | ClinVar | Detail |
NM_130837.3(OPA1):c.1499G>A (p.Arg500His) AND not provided | ClinVar | Detail |
NM_130837.3(OPA1):c.1499G>A (p.Arg500His) AND Mitochondrial disease | ClinVar | Detail |
NM_130837.3(OPA1):c.1499G>A (p.Arg500His) AND Autosomal dominant optic atrophy classic form | ClinVar | Detail |
NM_130837.3(OPA1):c.1499G>A (p.Arg500His) AND OPA1-related disorder | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Importantly, our data provide the first evidence that a single, recurrent mutation in WFS1, p.A684V,... | DisGeNET | Detail |
Importantly, our data provide the first evidence that a single, recurrent mutation in WFS1, p.A684V,... | DisGeNET | Detail |
We previously described a unique syndrome of optic atrophy, sensorineural hearing loss, ptosis, and ... | DisGeNET | Detail |
Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation. | DisGeNET | Detail |
OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. | DisGeNET | Detail |
OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. | DisGeNET | Detail |
The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mu... | 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
- rs80356529 dbSNP
- Genome
- hg38
- Position
- chr3:193,643,996-193,643,996
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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