Variant #0000171517 (NC_000003.11:g.193335018C>T, OPA1(NM_015560.2):c.500C>T)

Individual ID 00105468
Chromosome 3
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Probably does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.193335018C>T
DNA change (hg38) g.193617229C>T
Published as -
ISCN -
DB-ID OPA1_000045
Variant remarks eOPA1 identifier (obsolete):OA_00048; Nucleotide change: C to G at 500 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature
Reference PubMed: Thiselton 2002
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Marc Ferre
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Marc Ferre
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 ./. - c.500C>T r.(?) p.(Pro167Leu) -
OPA1 NM_130837.2 -/-? 4 c.500C>T r.(?) p.(Pro167Leu) Non-specific domain



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000105939 DNA SEQ Blood - OPA1 1 Marc Ferre