Genomic variant #0000063629

Individual ID 00036434
Chromosome 3
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.193333491C>T
DNA change (hg38) g.193615702C>T
Published as -
ISCN -
DB-ID OPA1_000389 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Andreas Laner




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 ?/. - c.380C>T - r.(?) p.(Pro127Leu) -
OPA1 NM_130837.2 ?/. 3 c.380C>T VUS r.(?) p.(Pro127Leu) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000036504 DNA SEQ - - OPA1 1 Andreas Laner