Variant #0000123155 (NC_000001.10:g.?, NM_000350.2:c.? (ABCA4))
| Individual ID |
00076927 |
| Chromosome |
1 |
| Allele |
Unknown |
| Affects function (as reported) |
Probably affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
likely pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.? |
| DNA change (hg38) |
- |
| Published as |
c.3385C>T |
| ISCN |
- |
| DB-ID |
ABCA4_000000 See all 15 reported entries |
| Variant remarks |
- |
| Reference |
PubMed: Zernant 2011 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
? |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Genomic location of variant could not be determined |
| 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 |
2016-07-19 11:38:48 +02:00 (CEST) |
Variant on transcripts
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