Genomic variant #0000344915

Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.193332660C>T
DNA change (hg38) g.193614871C>T
Published as -
ISCN -
DB-ID OPA1_000158 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland; Variant no longer found in the VKGL dataset for this center.
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 +/+? 2 c.181C>T r.(?) p.(Gln61Ter) -
OPA1 NM_130837.2 +/+? 2 c.181C>T r.(?) p.(Gln61Ter) -