chr1:198750486:A>G Detail (hg38) (PTPRC)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:198,719,615-198,719,615 View the variant detail on this assembly version. |
| hg38 | chr1:198,750,486-198,750,486 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_080921.3:c.2590-6A>G | |
| NM_002838.4:c.3073-6A>G | ||
| Ensemble | ENST00000348564.11:c.2590-6A>G |
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
|
2024-01-29 | criteria provided, conflicting interpretations | Immunodeficiency 104 |
germline
|
Detail |
Likely benign
|
2022-08-01 | criteria provided, single submitter | not provided |
germline
|
Detail |
Uncertain significance
|
2021-03-30 | criteria provided, single submitter | Immunodeficiency 105 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_002838.5(PTPRC):c.3073-6A>G AND Immunodeficiency 104 | ClinVar | Detail |
| NM_002838.5(PTPRC):c.3073-6A>G AND not provided | ClinVar | Detail |
| NM_002838.5(PTPRC):c.3073-6A>G AND Immunodeficiency 105 | ClinVar | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs191867796 dbSNP
- Genome
- hg38
- Position
- chr1:198,750,486-198,750,486
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8572
- 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)
- 120934
- Allele Counts in All Race (ExAC)
- 46
- Heterozygous Counts in All Race (ExAC)
- 46
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 3.803727653100038E-4
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