Variant #0000129968 (NC_000001.10:g.94493000C>T, NC_000001.10(NM_000350.2):c.4539+2001G>A (ABCA4))
Individual ID |
00080789 |
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.94493000C>T |
DNA change (hg38) |
g.94027444C>T |
Published as |
- |
ISCN |
- |
DB-ID |
ABCA4_000015 See all 97 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Lonneke Haer-Wigman |
Database submission license |
No license selected |
Created by |
Lonneke Haer-Wigman |
Date created |
2016-09-13 16:26:29 +02:00 (CEST) |
Date last edited |
2022-09-19 11:44:30 +02:00 (CEST) |

Variant on transcripts
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