Variant #0000052308 (NC_000007.13:g.105910061A>T, NC_000007.13(NM_005746.2):c.448-303T>A (NAMPT))
| Individual ID |
00028958 |
| Chromosome |
7 |
| Allele |
Parent #1 |
| Affects function (as reported) |
Effect unknown |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
VUS (!) |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.105910061A>T |
| DNA change (hg38) |
g.106269615A>T |
| Published as |
- |
| ISCN |
- |
| DB-ID |
NAMPT_000001 See all 3 reported entries |
| Variant remarks |
no homozygous cases, hetreozygotes only in adults, not in children (0/710), allele suggested to be associated protective |
| Reference |
PubMed: Blakemore 2009 |
| ClinVar ID |
- |
| dbSNP ID |
rs10487818 |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
7/1567 cases |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2015-01-06 21:21:25 +01:00 (CET) |
| Date last edited |
2021-11-18 11:26:25 +01:00 (CET) |

Variant on transcripts
Screenings
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