Variant #0000813978 (NC_000003.11:g.97510670G>A, NM_001278293.1:c.535G>A (ARL6))
| Individual ID |
00385226 |
| Chromosome |
3 |
| Allele |
Unknown |
| Affects function (as reported) |
Effect unknown |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
VUS |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.97510670G>A |
| DNA change (hg38) |
- |
| Published as |
c.[535G>A];[=] |
| ISCN |
- |
| DB-ID |
ARL6_000063 |
| Variant remarks |
normal 2nd chromosome |
| Reference |
PubMed: Redin-2012 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Julia Lopez |
| Date created |
2021-10-09 03:44:00 +02:00 (CEST) |
| Date last edited |
N/A |

Variant on transcripts
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