Genomic variant #0000304785

Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.193353232G>A
DNA change (hg38) g.193635443G>A
Published as OPA1(NM_130837.2):c.869G>A (p.R290Q)
ISCN -
DB-ID OPA1_000400 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 0
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 ?/? 7 c.704G>A r.(?) p.(Arg235Gln) -
OPA1 NM_130837.2 ?/? 9 c.869G>A r.(?) p.(Arg290Gln) -