Genomic variant #0000304776

Chromosome 3
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.193332592_193332609del
DNA change (hg38) -
Published as OPA1(NM_130837.2):c.113_130delGAAGCATTTATCATTCAC (p.R38_S43del)
ISCN -
DB-ID OPA1_000397
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 -?/. - c.113_130del likely benign r.(?) p.(Arg38_Ser43del) -
OPA1 NM_130837.2 -?/. - c.113_130del likely benign r.(?) p.(Arg38_Ser43del) -