Variant #0000736175 (NC_000003.11:g.97506846G>A, NM_001278293.1:c.362G>A (ARL6))
| Individual ID |
00335456 |
| Chromosome |
3 |
| Allele |
Both (homozygous) |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.97506846G>A |
| DNA change (hg38) |
g.97788002G>A |
| Published as |
- |
| ISCN |
- |
| DB-ID |
ARL6_000041 See all 4 reported entries |
| Variant remarks |
- |
| Reference |
PubMed: Biswas 2017 |
| ClinVar ID |
- |
| dbSNP ID |
rs765715798 |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
4.0E-5 View details |
| Owner |
LOVD |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2021-03-05 19:30:17 +01:00 (CET) |
| Date last edited |
N/A |

Variant on transcripts
Screenings
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