Genomic variant #0000350993

Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.193333560G>T
DNA change (hg38) -
Published as OPA1:NM_130837.2:c.448+1G>T
ISCN -
DB-ID OPA1_000418
Variant remarks VKGL data sharing initiative Nederland; correct HGVS to be checked
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_Nijmegen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 +/. - c.448+1G>T pathogenic r.spl? p.? -
OPA1 NM_130837.2 +/. - c.448+1G>T pathogenic r.spl? p.? -