Variant #0000171743 (NC_000003.11:g.(193311199_193332511)_(193385070_193409851)dup, OPA1(NM_015560.2):c.(32+1_33-1)_(2818+1_2819-1)dup)
Individual ID |
00105694 |
Chromosome |
3 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Probably affects function |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.(193311199_193332511)_(193385070_193409851)dup |
DNA change (hg38) |
- |
Published as |
33-?_2983+?dup |
ISCN |
- |
DB-ID |
OPA1_000273 |
Variant remarks |
eOPA1 identifier (obsolete):OA_00287; Nucleotide change: Large duplication of exons 2-27 (reference: OPA1 transcript variant 1, NM_015560.1); Location: exon 2 to exon 27 (reference: OPA1 transcript variant 1, NM_015560.1); Note: Detected by MLP |
Reference |
Mavrogiannis LA, Prescott K, Charlton RS (unpublished) |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (large NGS studies) |
Variant not found in online data sets |
Owner |
Lampros Mavrogiannis |

Variant on transcripts
Screenings
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