chr3:12392664:T>C Detail (hg38) (PPARG)
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
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= |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2019-09-24 | criteria provided, single submitter | PPARG-related disorder |
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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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