chr2:219745744:G>A Detail (hg19) (WNT10A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:219,745,744-219,745,744 |
| hg38 | chr2:218,881,022-218,881,022 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_025216.2:c.27G>A | NP_079492.2:p.Trp9Ter |
| Ensemble | ENST00000258411.8:c.27G>A | ENST00000258411.8:p.Trp9Ter |
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
|
2009-07-01 | no assertion criteria provided | Odonto-onycho-dermal dysplasia |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.360 | Odontoonychodermal dysplasia | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_025216.3(WNT10A):c.27G>A (p.Trp9Ter) AND Odonto-onycho-dermal dysplasia | 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
- rs121908123 dbSNP
- Genome
- hg19
- Position
- chr2:219,745,744-219,745,744
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser