Variant #0000128583 (NC_000016.9:g.1842018A>T, IGFALS(NM_004970.2):c.401T>A)
Individual ID |
00079726 |
Chromosome |
16 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.1842018A>T |
DNA change (hg38) |
g.1792017A>T |
Published as |
- |
ISCN |
- |
DB-ID |
IGFALS_000007 See all 2 reported entries |
Variant remarks |
- |
Reference |
PubMed: David 2010 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
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 |
2008-06-13 17:29:35 +02:00 (CEST) |
Date last edited |
2019-12-08 13:28:06 +01:00 (CET) |

Variant on transcripts
Screenings
|
|