Variant #0000736603 (NC_000001.10:g.94577002G>C, NM_000350.2:c.294C>G (ABCA4))
Individual ID |
00335808 |
Chromosome |
1 |
Allele |
Parent #1 |
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.94577002G>C |
DNA change (hg38) |
g.94111446G>C |
Published as |
- |
ISCN |
- |
DB-ID |
ABCA4_000987 See all 14 reported entries |
Variant remarks |
variant other allele not reported |
Reference |
PubMed: Ramkumar 2017 |
ClinVar ID |
- |
dbSNP ID |
rs145133167 |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
7.0E-5 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2021-03-09 09:58:04 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
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