Variant #0000785848 (NC_000003.11:g.(193366661_193372650)_(193415600)?del, OPA1(NM_015560.2):c.(1847+1_1848-1)_*3211{0})

Individual ID 00373703
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.(193366661_193372650)_(193415600)?del
DNA change (hg38) -
Published as del ex20_29
ISCN -
DB-ID OPA1_000617
Variant remarks ACMG PVS1, PM2
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) Genomic location of variant could not be determined
Owner Nicole Weisschuh
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nicole Weisschuh




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 +?/. 19i_29_ c.(1847+1_1848-1)_*3211{0} r.(?) p.(0?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000374936 DNA SEQ - - OPA1 1 Nicole Weisschuh