chr3:10188315:T>C Detail (hg19) (VHL)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:10,188,315-10,188,315 |
| hg38 | chr3:10,146,631-10,146,631 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000551.3:c.458T>C | NP_000542.1:p.Leu153Pro |
| NM_198156.2:c.341-3156T>C | ||
| Ensemble | ENST00000256474.3:c.458T>C | ENST00000256474.3:p.Leu153Pro |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| von Hippel-Lindau disease | C |
Predisposing
|
Supports
|
Uncertain Significance | Rare Germline | 2 | 21463266 | Detail | |
| von Hippel-Lindau disease | C |
Predisposing
|
Supports
|
Uncertain Significance | Rare Germline | 1 | 26763786 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In a study of 426 unrelated VHL patients, 111 were discovered to have alterations in the VHL gene. 1... | CIViC Evidence | Detail |
| A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy... | CIViC Evidence | 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
- -
- Genome
- hg19
- Position
- chr3:10,188,315-10,188,315
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Variant (CIViC) (CIViC Variant)
- L153P (c.458T>C)
- Transcript 1 (CIViC Variant)
- ENST00000256474.2
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1923
Genome browser