Genomic variant #0000171619

Individual ID 00105570
Chromosome 3
Allele Unknown
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.?
DNA change (hg38) -
Published as 27-5C>T
ISCN -
DB-ID OPA1_000149
Variant remarks eOPA1 identifier (obsolete):OA_00159; Nucleotide change: C to T at 27-5 (reference: OPA1 transcript variant 1, NM_015560.1)
Reference PubMed: Han 2006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Genomic location of variant could not be determined
Owner Marc Ferre




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
OPA1 NM_130837.2 -/-? - c.? benign r.(?) p.(=) Basic (exons 1-3)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106041 DNA SEQ Blood - OPA1 1 Marc Ferre