Variant #0000122923 (NC_000001.10:g.94496666G>A, NM_000350.2:c.4139C>T (ABCA4))
Individual ID |
00076776 |
Chromosome |
1 |
Allele |
Parent #2 |
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.94496666G>A |
DNA change (hg38) |
g.94031110G>A |
Published as |
P1380L |
ISCN |
- |
DB-ID |
ABCA4_000019 See all 636 reported entries |
Variant remarks |
- |
Reference |
PubMed: Burke 2010 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
? |
Frequency |
24, 119274, 0, 0.0002012 |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00022 View details |
Owner |
Stéphanie Cornelis |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Stéphanie Cornelis |
Date created |
2016-02-22 12:22:00 +01:00 (CET) |
Date last edited |
2016-12-05 12:19:06 +01:00 (CET) |

Variant on transcripts
Screenings
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