Variant #0000001563 (NC_000003.11:g.49457642A>G, NC_000003.11(NM_000481.3):c.471+2T>C (AMT))
| Chromosome |
3 |
| Allele |
Unknown |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Affects function |
| Classification method |
- |
| Clinical classification |
pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.49457642A>G |
| DNA change (hg38) |
g.49420209A>G |
| Published as |
- |
| ISCN |
- |
| DB-ID |
AMT_000016 See all 6 reported entries |
| Variant remarks |
1 Caucasian GCE family (P31; com-het) |
| Reference |
PubMed: Kure et al. 2006 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
SUMMARY record |
| Segregation |
yes |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
0 View details |
| Owner |
Anne Polvi |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Anne Polvi |
| Date created |
2012-08-31 09:47:27 +02:00 (CEST) |
| Date last edited |
2020-06-15 10:02:02 +02:00 (CEST) |

Variant on transcripts
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