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
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