chr3:193614982:TTAAAACTTC> Detail (hg38) (OPA1)

Information

Genome

Assembly Position
hg19 chr3:193,332,771-193,332,780 
hg38 chr3:193,614,982-193,614,991

HGVS

Type Transcript Protein
RefSeq NM_130831.2:c.292_301delTTAAAACTTC NP_570844.1:p.Leu98AlafsTer5
NM_130833.2:c.292_301delTTAAAACTTC NP_570846.1:p.Leu98AlafsTer5
NM_130837.2:c.292_301delTTAAAACTTC NP_570850.2:p.Leu98AlafsTer5
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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 2014-10-06 criteria provided, single submitter not provided germline 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.292_301del (p.Leu98fs) AND not provided 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
rs794727289 dbSNP
Genome
hg38
Position
chr3:193,614,982-193,614,991
Variant Type
snv
Reference Allele
TTAAAACTTC
Alternative Allele
-
Genome browser