chr12:53045371:T>C Detail (hg19) (KRT2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:53,045,371-53,045,371 |
| hg38 | chr12:52,651,587-52,651,587 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000423.2:c.556A>G | NP_000414.2:p.Asn186Asp |
| Ensemble | ENST00000309680.4:c.556A>G | ENST00000309680.4:p.Asn186Asp |
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
|
2000-01-01 | no assertion criteria provided | Ichthyosis bullosa of Siemens |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.484 | Ichthyosis bullosa of Siemens | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000423.3(KRT2):c.556A>G (p.Asn186Asp) AND Ichthyosis bullosa of Siemens | 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
- rs137852631 dbSNP
- Genome
- hg19
- Position
- chr12:53,045,371-53,045,371
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser