Variant #0000369111 (NC_000003.11:g.193332784A>G, OPA1(NM_015560.2):c.305A>G)

Individual ID 00164585
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.193332784A>G
DNA change (hg38) g.193614995A>G
Published as -
ISCN -
DB-ID OPA1_000218 See all 2 reported entries
Variant remarks eOPA1 identifier (obsolete):OA_00227; Nucleotide change: A to G at 305 (reference: OPA1 transcript variant 1, NM_015560.1)
Reference PubMed: Ferre 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 1.0E-5 View details
Owner Bastien Le Roux
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 +/+? - c.305A>G r.(?) p.(Tyr102Cys) Basic (exon 1-3)
OPA1 NM_130837.2 +/+? 2 c.305A>G r.(?) p.(Tyr102Cys) Basic (exon 1-3)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000165449 DNA SEQ Blood - OPA1 2 Bastien Le Roux