Genomic variant #0000171831

Individual ID 00105782
Chromosome 3
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.193311169G>T
DNA change (hg38) g.193593380G>T
Published as -
ISCN -
DB-ID OPA1_000328
Variant remarks Mutation in start codon of gene OPA1
Reference Mavrogiannis LA, Charlton RS (unpublished)
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 Lampros Mavrogiannis




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 ./. - c.3G>T - r.? p.? -
OPA1 NM_130837.2 +?/? 1 c.3G>T likely pathogenic r.(?) p.0? Basic (exons 1-3)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106253 DNA SEQ - - OPA1 1 Lampros Mavrogiannis