Variant #0000785805 (NC_000003.11:g.193332565del, OPA1(NM_015560.2):c.86del)

Individual ID 00373660
Chromosome 3
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.193332565del
DNA change (hg38) g.193614776del
Published as -
ISCN -
DB-ID OPA1_000618
Variant remarks -
Reference PubMed: Weisschuh 2021, Journal: Weisschuh 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Nicole Weisschuh
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nicole Weisschuh
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 +?/. - c.86del r.(?) p.(Pro29HisfsTer20) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000374893 DNA SEQ - - OPA1 1 Nicole Weisschuh