Variant #0000393246 (NC_000023.10:g.107975912C>T, IRS4(NM_003604.2):c.3663G>A)
Individual ID |
00172506 |
Chromosome |
X |
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.107975912C>T |
DNA change (hg38) |
g.108732682C>T |
Published as |
R1221R |
ISCN |
- |
DB-ID |
IRS4_000024 |
Variant remarks |
found once, nonrecurrent change |
Reference |
PubMed: Tarpey 2009 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
1/208 cases |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00208 View details |
Owner |
Lucy Raymond |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2009-05-08 12:40:34 +02:00 (CEST) |
Date last edited |
2018-07-27 13:05:42 +02:00 (CEST) |

Variant on transcripts
Screenings
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