Genomic variant #0000171517

Individual ID 00105468
Chromosome 3
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Probably does not affect function
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 (large NGS studies) Variant not found in online data sets
Owner Marc Ferre




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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