chr2:176094645:C>A Detail (hg38) (HOXD13)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:176,959,373-176,959,373 View the variant detail on this assembly version. |
| hg38 | chr2:176,094,645-176,094,645 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000523.3:c.947C>A | NP_000514.2:p.Ser316Tyr |
| Ensemble | ENST00000392539.4:c.947C>A | ENST00000392539.4:p.Ser316Tyr |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.360 | BRACHYDACTYLY, TYPE D | NA | CLINVAR | Detail | |
| 0.360 | BRACHYDACTYLY, TYPE E1 | Missense mutations in the homeodomain of HOXD13 are associated with brachydactyl... | UNIPROT | 12649808 | Detail |
| 0.360 | BRACHYDACTYLY, TYPE E1 | NA | CLINVAR | Detail | |
| 0.360 | BRACHYDACTYLY, TYPE D | Missense mutations in the homeodomain of HOXD13 are associated with brachydactyl... | UNIPROT | 12649808 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. | 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
- -
- Genome
- hg38
- Position
- chr2:176,094,645-176,094,645
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8652
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121372
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.239132584121543E-6
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