chr3:10142074:T>C Detail (hg38) (VHL)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:10,183,758-10,183,758 View the variant detail on this assembly version. |
| hg38 | chr3:10,142,074-10,142,074 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000551.3:c.227T>C | NP_000542.1:p.Phe76Ser |
| NM_198156.2:c.227T>C | NP_937799.1:p.Phe76Ser | |
| Ensemble | ENST00000256474.3:c.227T>C | ENST00000256474.3:p.Phe76Ser |
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 |
|---|---|---|---|---|---|
|
Uncertain significance
|
2018-08-01 | criteria provided, single submitter | Von Hippel-Lindau syndrome |
germline
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| von Hippel-Lindau disease | C |
Predisposing
|
Supports
|
Uncertain Significance | Rare Germline | 3 | 9829911 | Detail |
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.125 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Germline mutations were found in all 93 families that fulfilled clinical criteria of VHL disease. Mu... | CIViC Evidence | Detail |
| NM_000551.4(VHL):c.227T>C (p.Phe76Ser) AND Von Hippel-Lindau syndrome | 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
- rs730882033 dbSNP
- Genome
- hg38
- Position
- chr3:10,142,074-10,142,074
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Variant (CIViC) (CIViC Variant)
- F76S (c.227T>C)
- Transcript 1 (CIViC Variant)
- ENST00000256474.2
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1835
Genome browser