Variant #0000651344 (NC_000003.11:g.97506846G>A, NM_001278293.1:c.362G>A (ARL6))
| Individual ID |
00293487 |
| Chromosome |
3 |
| Allele |
Parent #1 |
| Affects function (as reported) |
Probably affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
likely 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 |
1 heterozygous, no homozygous; Clinindb (India) |
| Reference |
PubMed: Narang 2020, Journal: Narang 2020 |
| ClinVar ID |
- |
| dbSNP ID |
rs765715798 |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
1/2795 individuals |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
4.0E-5 View details |
| Owner |
Mohammed Faruq |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2020-03-11 19:46:11 +01:00 (CET) |
| Date last edited |
2022-02-27 16:18:40 +01:00 (CET) |

Variant on transcripts
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