chr11:6415770:GCC> Detail (hg19) (SMPD1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:6,415,770-6,415,772 |
| hg38 | chr11:6,394,540-6,394,542 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000543.4:c.1829_1831delGCC | NP_000534.3:p.Arg610del |
| NM_001007593.2:c.1829_1831delGCC | NP_001007594.2:p.Arg610del | |
| NM_001318087.1:c.1829_1831delGCC | NP_001305016.1:p.Arg610del |
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 |
|---|---|---|---|---|---|
| 0.266 | Niemann-Pick Diseases | NA | CLINVAR | Detail | |
| 0.565 | Niemann-Pick disease, type B | 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
- hg19
- Position
- chr11:6,415,770-6,415,772
- Variant Type
- snv
- Reference Allele
- GCC
- Alternative Allele
- -
- East Asian Chromosome Counts (ExAC)
- 8576
- 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)
- 119842
- Allele Counts in All Race (ExAC)
- 20
- Heterozygous Counts in All Race (ExAC)
- 20
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.6688640042722918E-4
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