Variant #0000059527 (NC_000003.11:g.97499065G>A, NC_000003.11(NM_001278293.1):c.185+1G>A (ARL6))
Individual ID |
00033156 |
Chromosome |
3 |
Allele |
Parent #1 |
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.97499065G>A |
DNA change (hg38) |
g.97780221G>A |
Published as |
- |
ISCN |
- |
DB-ID |
ARL6_000001 See all 4 reported entries |
Variant remarks |
- |
Reference |
PubMed: Neveling 2012 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Kornelia Neveling |
Database submission license |
No license selected |
Created by |
Kornelia Neveling |
Date created |
2012-02-04 14:28:42 +01:00 (CET) |
Date last edited |
2020-06-15 12:26:51 +02:00 (CEST) |

Variant on transcripts
Screenings
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