Genomic variant #0000171839

Individual ID 00105790
Chromosome 3
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.193333492G>A
DNA change (hg38) g.193615703G>A
Published as -
ISCN -
DB-ID OPA1_000336
Variant remarks -
Reference Mavrogiannis LA, Charlton RS (unpublished)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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 ./. - c.381G>A - r.(?) p.(=) -
OPA1 NM_130837.2 -?/? 3 c.381G>A likely benign r.(?) p.(=) Basic (exons 1-3)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106261 DNA SEQ - - OPA1 2 Lampros Mavrogiannis