chr15:42389054:GAA> Detail (hg38) (CAPN3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr15:42,681,252-42,681,254 |
| hg38 | chr15:42,389,054-42,389,056 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_173087.1:c.759_761delGAA | NP_775110.1:p.Lys254del |
| NM_024344.1:c.759_761delGAA | NP_077320.1:p.Lys254del | |
| NM_000070.2:c.759_761delGAA | NP_000061.1:p.Lys254del |
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 |
|---|---|---|---|---|---|
| 0.573 | Limb-girdle muscular dystrophy type 2A | NA | CLINVAR | Detail |
Annotation
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
- chr15:42,389,054-42,389,056
- Variant Type
- snv
- Reference Allele
- GAA
- Alternative Allele
- -
- East Asian Chromosome Counts (ExAC)
- 8654
- 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)
- 121412
- Allele Counts in All Race (ExAC)
- 4
- Heterozygous Counts in All Race (ExAC)
- 4
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 3.2945672585905844E-5
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