Genomic variant #0000171724

Individual ID 00105675
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.193343970C>G
DNA change (hg38) g.193626181C>G
Published as -
ISCN -
DB-ID OPA1_000254 See all 3 reported entries
Variant remarks eOPA1 identifier (obsolete):OA_00267; Nucleotide change: C to G at 768 (reference: OPA1 transcript variant 1, NM_015560.1)
Reference PubMed: Yu-Wai-Man 2010
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.625-5431C>G - r.(?) p.(=) -
OPA1 NM_130837.2 -/-? 7 c.768C>G benign r.(?) p.(Ser256Arg) Non-specific domain
OPA1-AS1 NR_046634.1 ./. - n.104+1048G>C - - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106146 DNA SEQ Blood - OPA1 1 Marc Ferre