Closed holtgrewe closed 11 months ago
chr4:113568536:G:GA
chr4:113568635:ATCAAAAGTAAAGAAAATTAT:A
Hm, for the first one we have the following JSON returned by the annonars service:
{
"clinvar": {
"release": "GRCh37",
"chromosome": "2",
"start": 219747090,
"stop": 219747090,
"reference": "C",
"alternative": "A",
"rcv": "RCV002247247",
"clinical_significance": 0,
"review_status": 3
}
}
For the second we have:
{
"clinvar": {
"release": "GRCh37",
"chromosome": "4",
"start": 113568536,
"stop": 113568537,
"reference": "G",
"alternative": "GA",
"rcv": "RCV001262130",
"clinical_significance": 0,
"review_status": 4
}
}
The third is indeed missing.
@gromdimon please look into the issue as the first two variants should appear
Actually, the last variant is chr4:113568636:ATCAAAAGTAAAGAAAATTAT:A
so the position was shifted in my comment.
So the URL for this in reev is:
and the result is
{
"clinvar": {
"release": "GRCh37",
"chromosome": "4",
"start": 113568636,
"stop": 113568655,
"reference": "ATCAAAAGTAAAGAAAATTAT",
"alternative": "A",
"rcv": "RCV002287861",
"clinical_significance": 0,
"review_status": 3
}
}
@gromdimon I think this is only an issue in our Vue front-end code and one fix should fix all issues.
Describe the bug ClinVar information is missing for variants.
To Reproduce Steps to reproduce the behavior:
Expected behavior REEV should redirect to VCV000004461.40 https://www.ncbi.nlm.nih.gov/clinvar/variation/4461
Screenshots