chr3:10183797:T>A Detail (hg19) (VHL)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:10,183,797-10,183,797 |
| hg38 | chr3:10,142,113-10,142,113 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000551.3:c.266T>A | NP_000542.1:p.Leu89His |
| NM_198156.2:c.266T>A | NP_937799.1:p.Leu89His | |
| Ensemble | ENST00000256474.3:c.266T>A | ENST00000256474.3:p.Leu89His |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
bronchus or lung, unspecified |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2015-07-14 | no assertion criteria provided | Papillary renal cell carcinoma type 1 |
somatic
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.125 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail | |
| 0.658 | Von Hippel-Lindau syndrome | Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from ... | UNIPROT | 8956040 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000551.4(VHL):c.266T>A (p.Leu89His) AND Papillary renal cell carcinoma type 1 | ClinVar | Detail |
| NA | DisGeNET | Detail |
| Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europ... | 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
- rs5030807 dbSNP
- Genome
- hg19
- Position
- chr3:10,183,797-10,183,797
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- A
- Variant (CIViC) (CIViC Variant)
- L89H (c.266T>A)
- Transcript 1 (CIViC Variant)
- ENST00000256474.2
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2308
Genome browser