Variant #0000817702 (NC_000003.11:g.193311169G>A, OPA1(NM_015560.2):c.3G>A)

Individual ID 00387678
Chromosome 3
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.193311169G>A
DNA change (hg38) g.193593380G>A
Published as OPA1 c.3G>A
ISCN -
DB-ID OPA1_000348 See all 3 reported entries
Variant remarks no protein change given, heterozygous
Reference PubMed: Zanolli 2020
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 +?/. - c.3G>A r.? p.? -
OPA1 NM_130837.2 +?/. - c.3G>A r.(?) p.(Met1?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000388904 DNA SEQ-NG blood targeted sequencing OPA1 1 LOVD