chr6:118015281:T>C Detail (hg19) (NUS1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:118,015,281-118,015,281 |
| hg38 | chr6:117,694,118-117,694,118 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_138459.3:c.629T>C | NP_612468.1:p.Leu210Ser |
| Ensemble | ENST00000368494.4:c.629T>C | ENST00000368494.4:p.Leu210Ser |
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 |
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
|
2023-12-30 | criteria provided, single submitter | Congenital disorder of glycosylation, type IAA |
germline
|
Detail |
|
Uncertain significance
|
2021-05-18 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.004 | Autoimmune Diseases | Given the role of CD247 in the response of the T cells, its entailment in autoim... | BeFree | 23861880 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_138459.5(NUS1):c.629T>C (p.Leu210Ser) AND Congenital disorder of glycosylation, type IAA | ClinVar | Detail |
| NM_138459.5(NUS1):c.629T>C (p.Leu210Ser) AND not provided | ClinVar | Detail |
| Given the role of CD247 in the response of the T cells, its entailment in autoimmune diseases and in... | 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
- rs1052237 dbSNP
- Genome
- hg19
- Position
- chr6:118,015,281-118,015,281
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- 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)
- 121354
- Allele Counts in All Race (ExAC)
- 9
- Heterozygous Counts in All Race (ExAC)
- 9
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 7.416319198378298E-5
Genome browser