Variant #0000171736 (NC_000003.11:g.(192802437_193311166)_(193336726_193343880)del, OPA1(NM_015560.2):c.(?_-1)_(624+1_625-1)del)
Individual ID |
00105687 |
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.(192802437_193311166)_(193336726_193343880)del |
DNA change (hg38) |
- |
Published as |
del ex1-5 |
ISCN |
- |
DB-ID |
OPA1_000266 |
Variant remarks |
eOPA1 identifier (obsolete):OA_00280; Nucleotide change: Deletion of exons 1-5 (reference: OPA1 transcript variant 1, NM_015560.1); Location: exon 1 to exon 5 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature; 5' markers D3S1601 and D3S3642 not deleted |
Reference |
PubMed: Fuhrmann 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 |
Marc Ferre |

Variant on transcripts
Screenings
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