chr3:193349411:AA> Detail (hg19) (OPA1)

Information

Genome

Assembly Position
hg19 chr3:193,349,411-193,349,412
hg38 chr3:193,631,622-193,631,623 

HGVS

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
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
Show details
Links
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

DescrptionSourceLinks
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
hg19
Position
chr3:193,349,411-193,349,412
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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