Genomic variant #0000171482

Individual ID 00105433
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.193349411_193349414del
DNA change (hg38) g.193631622_193631625del
Published as -
ISCN -
DB-ID OPA1_000010
Variant remarks eOPA1 identifier (obsolete):OA_00011; Nucleotide change: Deletion of 4 nucleotides at 635_638 (reference: OPA1 transcript variant 1, NM_015560.1)
Reference PubMed: Baris 2003
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.635_638del - r.(?) p.(Lys212Argfs*15) -
OPA1 NM_130837.2 +/+? 8 c.800_803del pathogenic r.(?) p.(Lys267Argfs*15) Non-specific domain



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000105904 DNA SEQ Blood - OPA1 1 Marc Ferre