Genomic variant #0000171548

Individual ID 00105499
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.193333560G>C
DNA change (hg38) g.193615771G>C
Published as -
ISCN -
DB-ID OPA1_000076
Variant remarks eOPA1 identifier (obsolete):OA_00084; Nucleotide change: G to C at 448+1 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: Splicing defect
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.448+1G>C - r.spl? p.? -
OPA1 NM_130837.2 +/+? 3i c.448+1G>C pathogenic r.spl p.? Basic (exons 1-3)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000105970 DNA SEQ Blood - OPA1 1 Marc Ferre