Variant #0000084844 (NC_000003.11:g.193332592_193332609del, NM_015560.2:c.113_130del (OPA1))

Individual ID 00054875
Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.193332592_193332609del
DNA change (hg38) g.193614803_193614820del
Published as -
ISCN -
DB-ID OPA1_000082 See all 12 reported entries
Variant remarks -
Reference PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Erik-Jan Kamsteeg
Database submission license No license selected
Created by Erik-Jan Kamsteeg
Date created 2015-11-30 16:24:33 +01:00 (CET)
Date last edited 2025-03-09 17:47:52 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 ?/. 2 c.113_130del r.(?) p.(Arg38_Ser43del) -
OPA1 NM_130837.2 ?/. 2 c.113_130del r.(?) p.(Arg38_Ser43del) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000054827 DNA SEQ-NG - - OPA1 1 Erik-Jan Kamsteeg


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