Genomic variant #0000171723

Individual ID 00105674
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.193332823C>T
DNA change (hg38) g.193615034C>T
Published as -
ISCN -
DB-ID OPA1_000253 See all 2 reported entries
Variant remarks eOPA1 identifier (obsolete):OA_00266; Nucleotide change: C to T at 344 (reference: OPA1 transcript variant 1, NM_015560.1)
Reference PubMed: Yu-Wai-Man 2010
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 Marc Ferre




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 ./. - c.344C>T - r.(?) p.(Ala115Val) -
OPA1 NM_130837.2 +/+? 2 c.344C>T pathogenic r.(?) p.(Ala115Val) Basic (exons 1-3)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106145 DNA SEQ Blood - OPA1 1 Marc Ferre