Variant #0000518783 (NC_000003.11:g.193332763C>T, OPA1(NM_015560.2):c.284C>T)

Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.193332763C>T
DNA change (hg38) g.193614974C>T
Published as OPA1(NM_130837.2):c.284C>T (p.T95M)
ISCN -
DB-ID OPA1_000167 See all 2 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) 8.0E-5 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.284C>T r.(?) p.(Thr95Met) -
OPA1 NM_130837.2 ?/. - c.284C>T r.(?) p.(Thr95Met) -