chr17:50170245:C>G Detail (hg38) (SGCA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:48,247,606-48,247,606 View the variant detail on this assembly version. |
| hg38 | chr17:50,170,245-50,170,245 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000023.3:c.850C>G | NP_000014.1:p.Arg284Gly |
| NM_001135697.2:c.585-395C>G | ||
| Ensemble | ENST00000262018.8:c.850C>G | ENST00000262018.8:p.Arg284Gly |
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 | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Conflicting interpretations of pathogenicity
|
2023-11-07 | criteria provided, conflicting interpretations | autosomal recessive limb-girdle muscular dystrophy type 2D |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.324 | Alpha-Sarcoglycanopathies | Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one ... | UNIPROT | 9585331 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000023.4(SGCA):c.850C>G (p.Arg284Gly) AND Autosomal recessive limb-girdle muscular dystrophy type... | ClinVar | Detail |
| Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive m... | 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
- rs137852623 dbSNP
- Genome
- hg38
- Position
- chr17:50,170,245-50,170,245
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- 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)
- 121260
- Allele Counts in All Race (ExAC)
- 5
- Heterozygous Counts in All Race (ExAC)
- 5
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 4.123371268349002E-5
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