Variant #0000841432 (NC_000003.11:g.97503810C>T, NM_001278293.1:c.266C>T (ARL6))
| Individual ID |
00404107 |
| Chromosome |
3 |
| Allele |
Both (homozygous) |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
pathogenic (recessive) |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.97503810C>T |
| DNA change (hg38) |
- |
| Published as |
619C>T (A89V) |
| ISCN |
- |
| DB-ID |
ARL6_000070 |
| Variant remarks |
functional analysis |
| Reference |
PubMed: Aldahmesh 2009, PubMed: Pretorius 2011 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2022-02-27 17:18:34 +01:00 (CET) |
| Date last edited |
2022-02-27 20:59:21 +01:00 (CET) |

Variant on transcripts
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