Genomic variant #0000608451

Chromosome 3
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.193332718A>G
DNA change (hg38) g.193614929A>G
Published as OPA1(NM_130837.2):c.239A>G (p.Y80C)
ISCN -
DB-ID OPA1_000139 See all 3 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.001 View details
Owner VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 -?/. - c.239A>G r.(?) p.(Tyr80Cys) -
OPA1 NM_130837.2 -?/. - c.239A>G r.(?) p.(Tyr80Cys) -