Variant #0000476205 (NC_000003.11:g.97503895T>C, NC_000003.11(NM_001278293.1):c.349+2T>C (ARL6))
Individual ID |
00232398 |
Chromosome |
3 |
Allele |
Unknown |
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.97503895T>C |
DNA change (hg38) |
g.97785051T>C |
Published as |
- |
ISCN |
- |
DB-ID |
ARL6_000037 |
Variant remarks |
- |
Reference |
PubMed: Koyanagi 2019, Journal: Koyanagi 2019 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
1/1204 cases with retinitis pigmentosa |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Yoshito Koyanagi |
Database submission license |
No license selected |
Created by |
Yoshito Koyanagi |
Date created |
2019-05-03 15:11:26 +02:00 (CEST) |
Date last edited |
2022-02-27 16:18:40 +01:00 (CET) |

Variant on transcripts
Screenings
|