Variant #0000518781 (NC_000003.11:g.193332661A>G, OPA1(NM_015560.2):c.182A>G)
Chromosome |
3 |
Allele |
Unknown |
Affects function (as reported) |
Probably does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.193332661A>G |
DNA change (hg38) |
g.193614872A>G |
Published as |
OPA1(NM_130837.2):c.182A>G (p.Q61R) |
ISCN |
- |
DB-ID |
OPA1_000549 |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (large NGS studies) |
0.00053 View details |
Owner |
VKGL-NL_Rotterdam |

Variant on transcripts
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