Variant #0001045874 (NC_000003.11:g.12458217T>G, NM_005037.5:c.750T>G (PPARG))

Chromosome 3
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.12458217T>G
DNA change (hg38) -
Published as PPARG(NM_015869.4):c.834T>G (p.(Tyr278Ter))
ISCN -
DB-ID PPARG_000058
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2025-07-08 13:22:38 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PPARG NM_005037.5 +?/. - c.750T>G r.(?) p.(Tyr250*)
PPARG NM_138711.3 +?/. - c.750T>G r.(?) p.(Tyr250*)


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