Genomic variant #0000369064

Individual ID 00164540
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.193332669del
DNA change (hg38) g.193614880del
Published as -
ISCN -
DB-ID OPA1_000165 See all 2 reported entries
Variant remarks eOPA1 identifier (obsolete):OA_00174; Nucleotide change: Deletion of T at 189 (reference: OPA1 transcript variant 1, NM_015560.1)
Reference PubMed: Ferre 2009
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 Bastien Le Roux




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 +/+? - c.190del - r.(?) p.(Ser64Leufs*2) Basic (exon 1-3)
OPA1 NM_130837.2 +/+? 2 c.190del pathogenic r.(?) p.(Ser64Leufs*2) Basic (exon 1-3)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000165404 DNA SEQ Blood - OPA1 1 Bastien Le Roux