Variant #0000163733 (NC_000012.11:g.102813286C>A, IGF1(NM_000618.3):c.402+1G>T)
Individual ID |
00100794 |
Chromosome |
12 |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.102813286C>A |
DNA change (hg38) |
g.102419508C>A |
Published as |
- |
ISCN |
- |
DB-ID |
IGF1_000012 |
Variant remarks |
- |
Reference |
PubMed: Fuqua 2012, Journal: Fuqua 2012 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
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 |
2017-03-10 16:30:31 +01:00 (CET) |
Date last edited |
2020-07-02 17:55:32 +02:00 (CEST) |

Variant on transcripts
Screenings
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