Genomic variant #0000369111

Individual ID 00164585
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Probably affects function
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) Variant not found in online data sets
Owner Bastien Le Roux




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

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 pathogenic 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