chr3:10183719:T>C Detail (hg19) (VHL)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:10,183,719-10,183,719 |
| hg38 | chr3:10,142,035-10,142,035 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000551.3:c.188T>C | NP_000542.1:p.Leu63Pro |
| NM_198156.2:c.188T>C | NP_937799.1:p.Leu63Pro | |
| Ensemble | ENST00000256474.3:c.188T>C | ENST00000256474.3:p.Leu63Pro |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
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 |
|---|---|---|---|---|---|
Pathogenic
|
1998-07-29 | no assertion criteria provided | pheochromocytoma |
germline
|
Detail |
|
Uncertain significance
|
2016-02-04 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Uncertain significance
|
2018-05-06 | criteria provided, single submitter | Von Hippel-Lindau syndrome,Chuvash polycythemia |
germline
|
Detail |
|
Uncertain significance
|
2018-05-06 | criteria provided, single submitter | Von Hippel-Lindau syndrome,Chuvash polycythemia |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.416 | pheochromocytoma | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000551.4(VHL):c.188T>C (p.Leu63Pro) AND Pheochromocytoma | ClinVar | Detail |
| NM_000551.4(VHL):c.188T>C (p.Leu63Pro) AND not provided | ClinVar | Detail |
| NM_000551.4(VHL):c.188T>C (p.Leu63Pro) AND multiple conditions | ClinVar | Detail |
| NM_000551.4(VHL):c.188T>C (p.Leu63Pro) AND multiple conditions | ClinVar | Detail |
| NA | 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
- rs104893827 dbSNP
- Genome
- hg19
- Position
- chr3:10,183,719-10,183,719
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Variant (CIViC) (CIViC Variant)
- L63P (c.188T>C)
- Transcript 1 (CIViC Variant)
- ENST00000256474.2
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1944
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2300
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