chr1:161137001:C> Detail (hg19) (PPOX)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:161,137,001-161,137,001 |
hg38 | chr1:161,167,211-161,167,211 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000309.3:c.199delC | NP_000300.1:p.Leu67Ter |
NM_001122764.1:c.199delC | NP_001116236.1:p.Leu67Ter | |
Ensemble | ENST00000352210.9:c.199delC | ENST00000352210.9:p.Leu67Ter |
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
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.199del (p.Ala66_Leu67insTer) AND Variegate porphyria | ClinVar | Detail |
NM_001122764.3(PPOX):c.199del (p.Ala66_Leu67insTer) AND not provided | 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
- rs786204784 dbSNP
- Genome
- hg19
- Position
- chr1:161,137,001-161,137,001
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- -
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