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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