Variant #0000171628 (NC_000003.11:g.193332660C>T, OPA1(NM_015560.2):c.181C>T)

Individual ID 00105579
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.193332660C>T
DNA change (hg38) g.193614871C>T
Published as -
ISCN -
DB-ID OPA1_000158 See all 2 reported entries
Variant remarks eOPA1 identifier (obsolete):OA_00168; Nucleotide change: C to T at 181 (reference: OPA1 transcript variant 1, NM_015560.1)
Reference PubMed: Nakamura 2006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Marc Ferre
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Marc Ferre
Date created 2006-06-23 00:00:00 +02:00 (CEST)
Date last edited 2018-11-17 14:13:49 +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 ./. - c.181C>T r.(?) p.(Gln61*) -
OPA1 NM_130837.2 +/+? 2 c.181C>T r.(?) p.(Gln61*) Basic (exons 1-3)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106050 DNA SEQ Blood - OPA1 1 Marc Ferre