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 InternationalCreative Commons License
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)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PPARG NM_005037.5 +?/. - c.449T>C r.(?) p.(Leu150Pro)
PPARG NM_138711.3 +?/. - c.449T>C r.(?) p.(Leu150Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000453722 DNA SEQ - - PPARG 1 Johan den Dunnen


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