chr3:10191593:A>G Detail (hg19) (VHL, LOC107303340)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:10,191,593-10,191,593 |
| hg38 | chr3:10,149,909-10,149,909 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000551.3:c.586A>G | NP_000542.1:p.Lys196Glu |
| NM_198156.2:c.463A>G | NP_937799.1:p.Lys155Glu | |
| Ensemble | ENST00000256474.3:c.586A>G | ENST00000256474.3:p.Lys196Glu |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 3 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| 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
|
2023-11-15 | criteria provided, single submitter | Chuvash polycythemia,Von Hippel-Lindau syndrome |
germline
|
Detail |
|
Likely pathogenic
|
2023-11-15 | criteria provided, single submitter | Chuvash polycythemia,Von Hippel-Lindau syndrome |
germline
|
Detail |
Uncertain significance
|
2020-06-22 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Uncertain significance
|
2023-08-04 | criteria provided, single submitter | Von Hippel-Lindau syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.658 | Von Hippel-Lindau syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000551.4(VHL):c.586A>G (p.Lys196Glu) AND multiple conditions | ClinVar | Detail |
| NM_000551.4(VHL):c.586A>G (p.Lys196Glu) AND multiple conditions | ClinVar | Detail |
| NM_000551.4(VHL):c.586A>G (p.Lys196Glu) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000551.4(VHL):c.586A>G (p.Lys196Glu) 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
- rs281860296 dbSNP
- Genome
- hg19
- Position
- chr3:10,191,593-10,191,593
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Variant (CIViC) (CIViC Variant)
- K196E (c.586A>G)
- Transcript 1 (CIViC Variant)
- ENST00000256474.2
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2147
Genome browser