Genomic variant #0000171883

Individual ID 00105701
Chromosome 3
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.193335990G>A
DNA change (hg38) g.193618201G>A
Published as -
ISCN -
DB-ID OPA1_000282 See all 4 reported entries
Variant remarks -
Reference PubMed: Bonifert 2014
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 Tobias Bonifert




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 ./. - c.557-668G>A - r.(?) p.(=) -
OPA1 NM_130837.2 +/+? 5i c.610+364G>A pathogenic r.(?) p.? Non-specific domain



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106172 DNA SEQ Blood - OPA1 2 Tobias Bonifert