Variant #0000094915 (NC_000003.11:g.97510669A>G, NM_001278293.1:c.534A>G (ARL6))
Individual ID |
00063828 |
Chromosome |
3 |
Allele |
Both (homozygous) |
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.97510669A>G |
DNA change (hg38) |
g.97791825A>G |
Published as |
g.38272A>G |
ISCN |
- |
DB-ID |
ARL6_000026 See all 4 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
1.0E-5 View details |
Owner |
Muhammad Ajmal |
Database submission license |
No license selected |
Created by |
Muhammad Ajmal |
Date created |
2016-04-18 14:47:34 +02:00 (CEST) |
Date last edited |
2016-04-19 09:24:37 +02:00 (CEST) |

Variant on transcripts
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