Variant #0000002811 (NC_000003.12:g.68777C>G, PPARG(NM_001354668.2):c.34C>G)

Individual ID 00000650
Chromosome 3
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.68777C>G
Published as -
Reference Aiman Nadia Akmar Rahman et al. (2020): http://www.kk.usm.my/journal/index.php/mjhg/article/view/37/8
DB-ID PPARG_000001 See all 2 reported entries
dbSNP ID rs1801282
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
PPARG NM_001354668.2 +?/. - c.34C>G Pro12Ala r.(?) p.(Pro12Ala) Likely benign​



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000717 DNA MCA;PCR;SEQ PPARG 1 Nur Aisyah Athirah