chrY:644634:T>C Detail (hg38) (SHOX)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrY:555,369-555,369 View the variant detail on this assembly version. |
| hg38 | chrY:644,634-644,634 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000711141.1:c.633+3547T>C | |
| ENST00000711142.1:c.877T>C | ENST00000711142.1:p.Ter293Argext*? |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2020-09-08 | criteria provided, single submitter | Leri-Weill dyschondrosteosis |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.498 | Leri-Weill dyschondrosteosis | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000451.4(SHOX):c.877T>C (p.Ter293Arg) AND Leri-Weill dyschondrosteosis | 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
- rs137852559 dbSNP
- Genome
- hg38
- Position
- chrY:644,634-644,634
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser