Variant #0000063635 (NC_000003.11:g.193310890C>T, OPA1(NM_015560.2):c.-277C>T)

Individual ID 00036440
Chromosome 3
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.193310890C>T
DNA change (hg38) g.193593101C>T
Published as -
ISCN -
DB-ID OPA1_000394
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs181230813
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 ?/. - c.-277C>T r.(?) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000036510 DNA SEQ - - OPA1 1 Andreas Laner