chr3:12392664:T>C Detail (hg38) (PPARG)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr3:12,434,163-12,434,163 View the variant detail on this assembly version.
hg38	chr3:12,392,664-12,392,664

HGVS

PPARG

Type	Transcript	Protein
RefSeq	NM_015869.4:c.531T>C	NP_056953.2:p.Asp177=
	NM_138712.3:c.441T>C	NP_619726.2:p.Asp147=
	NM_005037.5:c.441T>C	NP_005028.4:p.Asp147=
Ensemble	ENST00000287820.10:c.531T>C	ENST00000287820.10:p.Asp177=
	ENST00000309576.11:c.441T>C	ENST00000309576.11:p.Asp147=
	ENST00000397000.6:c.441T>C	ENST00000397000.6:p.Asp147=
	ENST00000397010.7:c.441T>C	ENST00000397010.7:p.Asp147=
	ENST00000397015.7:c.441T>C	ENST00000397015.7:p.Asp147=
	ENST00000397026.7:c.441T>C	ENST00000397026.7:p.Asp147=
	ENST00000643197.2:c.441T>C	ENST00000643197.2:p.Asp147=
	ENST00000643888.2:c.441T>C	ENST00000643888.2:p.Asp147=
	ENST00000644622.2:c.441T>C	ENST00000644622.2:p.Asp147=
	ENST00000651735.1:c.441T>C	ENST00000651735.1:p.Asp147=
	ENST00000652098.1:c.-17-13218T>C
	ENST00000652431.1:c.129T>C	ENST00000652431.1:p.Asp43=
	ENST00000681982.1:c.441T>C	ENST00000681982.1:p.Asp147=
	ENST00000682446.1:c.441T>C	ENST00000682446.1:p.Asp147=
	ENST00000683586.1:c.441T>C	ENST00000683586.1:p.Asp147=
	ENST00000683699.1:c.531T>C	ENST00000683699.1:p.Asp177=

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely benign
Review star
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Links

PPARG

Type	Database	ID	Link
Gene	MIM	601487	OMIM
	HGNC	9236	HGNC
	Ensembl	ENSG00000132170	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely benign	2019-09-24	criteria provided, single submitter	PPARG-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_138711.6(PPARG):c.441T>C (p.Asp147=) AND PPARG-related disorder	ClinVar	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
Genome: hg38
Position: chr3:12,392,664-12,392,664
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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