Variant #0000517696 (NC_000003.11:g.12458209G>A, NM_005037.5:c.742G>A (PPARG))

Chromosome 3
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.12458209G>A
DNA change (hg38) g.12416710G>A
Published as PPARG(NM_005037.5):c.742G>A (p.(Val248Ile))
ISCN -
DB-ID PPARG_000009
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) 7.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2024-08-28 13:16:32 +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.742G>A r.(?) p.(Val248Ile)
PPARG NM_138711.3 -?/. - c.742G>A r.(?) p.(Val248Ile)


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