chr8:76984016:C>T Detail (hg38) (PEX2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr8:77,896,252-77,896,252 View the variant detail on this assembly version. |
hg38 | chr8:76,984,016-76,984,016 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000318.2:c.163G>A | NP_000309.1:p.Glu55Lys |
NM_001172087.1:c.163G>A | NP_001165558.1:p.Glu55Lys | |
NM_001079867.1:c.163G>A | NP_001073336.1:p.Glu55Lys |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
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
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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infantile Refsum disease |
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MGS000082
(TMGS000165) |
Kenjiro Kosaki Kenjiro Kosaki |
Keio University Mutation View |
ClinVar
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.240 | Peroxisome biogenesis disorder 5B | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000318.3(PEX2):c.163G>A (p.Glu55Lys) AND Peroxisome biogenesis disorder 5B | ClinVar | Detail |
NM_000318.3(PEX2):c.163G>A (p.Glu55Lys) AND Peroxisome biogenesis disorder | 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
- rs61752119 dbSNP
- Genome
- hg38
- Position
- chr8:76,984,016-76,984,016
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
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