chr3:10183769:A>G Detail (hg19) (VHL)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:10,183,769-10,183,769 |
| hg38 | chr3:10,142,085-10,142,085 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000551.3:c.238A>G | NP_000542.1:p.Ser80Gly |
| NM_198156.2:c.238A>G | NP_937799.1:p.Ser80Gly | |
| Ensemble | ENST00000256474.3:c.238A>G | ENST00000256474.3:p.Ser80Gly |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2020-03-25 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2022-04-08 | criteria provided, single submitter | Chuvash polycythemia,Von Hippel-Lindau syndrome |
germline
|
Detail |
|
Pathogenic
|
2022-04-08 | criteria provided, single submitter | Chuvash polycythemia,Von Hippel-Lindau syndrome |
germline
|
Detail |
|
Likely pathogenic
|
2021-08-04 | no assertion criteria provided | Von Hippel-Lindau syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.125 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000551.4(VHL):c.238A>G (p.Ser80Gly) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000551.4(VHL):c.238A>G (p.Ser80Gly) AND multiple conditions | ClinVar | Detail |
| NM_000551.4(VHL):c.238A>G (p.Ser80Gly) AND multiple conditions | ClinVar | Detail |
| NM_000551.4(VHL):c.238A>G (p.Ser80Gly) 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
- rs786202787 dbSNP
- Genome
- hg19
- Position
- chr3:10,183,769-10,183,769
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Variant (CIViC) (CIViC Variant)
- S80G (c.238A>G)
- Transcript 1 (CIViC Variant)
- ENST00000256474.2
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2106
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