chrX:45076829:>T Detail (hg38) (KDM6A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrX:44,936,074-44,936,074 |
| hg38 | chrX:45,076,829-45,076,829 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | Kabuki syndrome 2 | NA | CLINVAR | Detail |
Annotation
Genome browser