Variant #0000171792 (NC_000003.11:g.193332592_193332609del, OPA1(NM_015560.2):c.113_130del)

Individual ID 00105743
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.193332592_193332609del
DNA change (hg38) g.193614803_193614820del
Published as 112_139del18
ISCN -
DB-ID OPA1_000082 See all 9 reported entries
Variant remarks eOPA1 identifier (obsolete):OA_00091; Nucleotide change: Deletion of 18 nucleotides at 112_129 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature
Reference PubMed: Thiselton 2002
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 Angelique Caignard
Database submission license No license selected
Created by Angelique Caignard
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 ./. - c.113_130del r.(?) p.(Arg38_Ser43del) -
OPA1 NM_130837.2 +/+? 2 c.113_130del r.(?) p.(Arg38_Ser43del) Basic (exons 1-3)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106214 DNA SEQ Blood - OPA1 1 Angelique Caignard