Variant #0000058975 (NC_000001.10:g.94476467T>A, NM_000350.2:c.5603A>T (ABCA4))
Individual ID |
00033137 |
Chromosome |
1 |
Allele |
Parent #2 |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.94476467T>A |
DNA change (hg38) |
g.94010911T>A |
Published as |
- |
ISCN |
- |
DB-ID |
ABCA4_000007 See all 1896 reported entries |
Variant remarks |
predicted benign |
Reference |
PubMed: Neveling 2012 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.04246 View details |
Owner |
Kornelia Neveling |
Database submission license |
No license selected |
Created by |
Kornelia Neveling |
Date created |
2012-02-04 14:23:49 +01:00 (CET) |
Date last edited |
2016-07-19 11:38:48 +02:00 (CEST) |

Variant on transcripts
Screenings
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