Variant #0000171874 (NC_000003.11:g.193332522C>A, OPA1(NM_015560.2):c.43C>A)

Individual ID 00105773
Chromosome 3
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.193332522C>A
DNA change (hg38) g.193614733C>A
Published as -
ISCN -
DB-ID OPA1_000318 See all 3 reported entries
Variant remarks -
Reference Mavrogiannis LA, Charlton RS (unpublished)
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00315 View details
Owner Lampros Mavrogiannis
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 ./. - c.43C>A r.(?) p.(Gln15Lys) -
OPA1 NM_130837.2 -?/? 2 c.43C>A r.(?) p.(Gln15Lys) Basic (exons 1-3)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106244 DNA SEQ - - OPA1 3 Lampros Mavrogiannis