Variant #0000815447 (NC_000001.10:g.94496547C>T, NC_000001.10(NM_000350.2):c.4253+5G>A (ABCA4))
Individual ID |
00386171 |
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.94496547C>T |
DNA change (hg38) |
g.94030991C>T |
Published as |
ABCA4:NM_000350.2 c.4253+5G>A, p.? |
ISCN |
- |
DB-ID |
ABCA4_000560 See all 41 reported entries |
Variant remarks |
heterozygous, individual solved, variant causal |
Reference |
PubMed: Rodriguez-Munoz 2020 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
1.0E-5 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |
Date created |
2021-10-20 11:58:39 +02:00 (CEST) |
Date last edited |
2021-10-20 12:01:50 +02:00 (CEST) |

Variant on transcripts
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