Variant #0000988484 (NC_000003.11:g.12434165T>C, NM_005037.5:c.449T>C (PPARG))
Individual ID |
00452120 |
Chromosome |
3 |
Allele |
Parent #1 |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
likely pathogenic (dominant) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.12434165T>C |
DNA change (hg38) |
g.12392666T>C |
Published as |
NM_015869.5:c.533T>C |
ISCN |
- |
DB-ID |
PPARG_000047 |
Variant remarks |
ACMG PM1, PM2, PP2, PP3, PP4 |
Reference |
PubMed: da Silva 2024 |
ClinVar ID |
SCV004697857 |
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 |
2024-07-12 11:40:14 +02:00 (CEST) |
Date last edited |
2024-07-12 11:53:09 +02:00 (CEST) |

Variant on transcripts
Screenings
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