chr1:161168463:G>A Detail (hg38) (PPOX)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:161,138,253-161,138,253 View the variant detail on this assembly version. |
hg38 | chr1:161,168,463-161,168,463 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000309.3:c.503G>A | NP_000300.1:p.Arg168His |
NM_001122764.1:c.503G>A | NP_001116236.1:p.Arg168His | |
Ensemble | ENST00000352210.9:c.503G>A | ENST00000352210.9:p.Arg168His |
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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2019-02-28 | criteria provided, single submitter | variegate porphyria |
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Detail |
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2022-11-03 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2020-07-02 | criteria provided, single submitter |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.458 | variegate porphyria | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001122764.3(PPOX):c.503G>A (p.Arg168His) AND Variegate porphyria | ClinVar | Detail |
NM_001122764.3(PPOX):c.503G>A (p.Arg168His) AND not provided | ClinVar | Detail |
NM_001122764.3(PPOX):c.503G>A (p.Arg168His) AND See cases | ClinVar | Detail |
NA | DisGeNET | 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
- -
- dbSNP
- rs41270025 dbSNP
- Genome
- hg38
- Position
- chr1:161,168,463-161,168,463
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser