Variant #0000689000 (NC_000003.11:g.193332549A>G, OPA1(NM_015560.2):c.70A>G)

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.193332549A>G
DNA change (hg38) -
Published as OPA1(NM_130837.2):c.70A>G (p.I24V)
ISCN -
DB-ID OPA1_000321 See all 4 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) Variant not found in online data sets
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.70A>G r.(?) p.(Ile24Val) -
OPA1 NM_130837.2 -?/. - c.70A>G r.(?) p.(Ile24Val) -