Genomic variant #0000171725

Individual ID 00105676
Chromosome 3
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.193343970C>G
DNA change (hg38) g.193626181C>G
Published as -
ISCN -
DB-ID OPA1_000254 See all 3 reported entries
Variant remarks eOPA1 identifier (obsolete):OA_00268; Location: exon 5b to exon 8 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;c ompound heterozygous mutation for C to G at 768 and A to G at 1019 (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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 ./. - c.625-5431C>G - r.(?) p.(=) -
OPA1 NM_130837.2 -/-? 7 c.768C>G benign r.(?) p.(Ser256Arg) Non-specific domain
OPA1-AS1 NR_046634.1 ./. - n.104+1048G>C - - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106147 DNA SEQ Blood - OPA1 2 Marc Ferre