chr1:59042272:A>G Detail (hg19) (TACSTD2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:59,042,272-59,042,272 |
| hg38 | chr1:58,576,600-58,576,600 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002353.2:c.557T>C | NP_002344.2:p.Leu186Pro |
| Ensemble | ENST00000371225.4:c.557T>C | ENST00000371225.4:p.Leu186Pro |
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
|
2005-01-01 | no assertion criteria provided | Lattice corneal dystrophy Type III |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.365 | Corneal dystrophy, Lattice type 3 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_002353.3(TACSTD2):c.557T>C (p.Leu186Pro) AND Lattice corneal dystrophy Type III | 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
- rs80358228 dbSNP
- Genome
- hg19
- Position
- chr1:59,042,272-59,042,272
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser