Variant #0001024717 (NC_000003.11:g.12447543C>T, NM_005037.5:c.698C>T (PPARG))

Chromosome 3
Allele Unknown
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.12447543C>T
DNA change (hg38) -
Published as PPARG(NM_015869.4):c.782C>T (p.(Ala261Val))
ISCN -
DB-ID PPARG_000054
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 2025-02-07 18:57:27 +01:00 (CET)
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.698C>T r.(?) p.(Ala233Val)
PPARG NM_138711.3 ?/. - c.698C>T r.(?) p.(Ala233Val)


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