chr12:52646750:C>T Detail (hg38) (KRT2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:53,040,534-53,040,534 View the variant detail on this assembly version. |
| hg38 | chr12:52,646,750-52,646,750 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000423.2:c.1459G>A | NP_000414.2:p.Glu487Lys |
| Ensemble | ENST00000309680.4:c.1459G>A | ENST00000309680.4:p.Glu487Lys |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2022-05-04 | criteria provided, single submitter | Ichthyosis bullosa of Siemens |
germline
|
Detail |
|
Pathogenic
|
1999-04-01 | no assertion criteria provided | Exfoliative ichthyosis |
germline
|
Detail |
|
Pathogenic
|
2023-03-14 | criteria provided, multiple submitters, no conflicts | not provided |
germline
not provided
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.484 | Ichthyosis bullosa of Siemens | NA | CLINVAR | Detail | |
| 0.120 | ICHTHYOSIS EXFOLIATIVA | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000423.3(KRT2):c.1459G>A (p.Glu487Lys) AND Ichthyosis bullosa of Siemens | ClinVar | Detail |
| NM_000423.3(KRT2):c.1459G>A (p.Glu487Lys) AND Exfoliative ichthyosis | ClinVar | Detail |
| NM_000423.3(KRT2):c.1459G>A (p.Glu487Lys) AND not provided | ClinVar | Detail |
| NA | DisGeNET | 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
- rs137852629 dbSNP
- Genome
- hg38
- Position
- chr12:52,646,750-52,646,750
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser