Variant #0000171548 (NC_000003.11:g.193333560G>C, OPA1(NM_015560.2):c.448+1G>C)
Individual ID |
00105499 |
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.193333560G>C |
DNA change (hg38) |
g.193615771G>C |
Published as |
- |
ISCN |
- |
DB-ID |
OPA1_000076 |
Variant remarks |
eOPA1 identifier (obsolete):OA_00084; Nucleotide change: G to C at 448+1 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: Splicing defect |
Reference |
PubMed: Thiselton 2002 |
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
Screenings
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