Variant #0000689001 (NC_000003.11:g.193332733G>A, OPA1(NM_015560.2):c.254G>A)

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.193332733G>A
DNA change (hg38) -
Published as OPA1(NM_130837.2):c.254G>A (p.R85H)
ISCN -
DB-ID OPA1_000589
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) 0.00062 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 -?/. - c.254G>A r.(?) p.(Arg85His) -
OPA1 NM_130837.2 -?/. - c.254G>A r.(?) p.(Arg85His) -