Variant #0000128809 (NC_000016.9:g.1840853C>T, IGFALS(NM_004970.2):c.1566G>A)
Chromosome |
16 |
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.1840853C>T |
DNA change (hg38) |
g.1790852C>T |
Published as |
- |
ISCN |
- |
DB-ID |
IGFALS_000016 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
rs2230053 |
Origin |
Germline |
Segregation |
- |
Frequency |
0.04-0.08 |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.01798 View details |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2008-09-12 18:44:29 +02:00 (CEST) |
Date last edited |
2008-09-12 18:45:51 +02:00 (CEST) |

Variant on transcripts
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