chr3:10142038:G>C Detail (hg38) (VHL)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:10,183,722-10,183,722 View the variant detail on this assembly version. |
| hg38 | chr3:10,142,038-10,142,038 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000551.3:c.191G>C | NP_000542.1:p.Arg64Pro |
| NM_198156.2:c.191G>C | NP_937799.1:p.Arg64Pro | |
| Ensemble | ENST00000256474.3:c.191G>C | ENST00000256474.3:p.Arg64Pro |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 3 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other phakomatoses, not elsewhere classified |
germline
|
MGS000077
(TMGS000152) |
Kenji Tamura | Kochi University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
1998-07-29 | no assertion criteria provided | pheochromocytoma |
germline
|
Detail |
|
Pathogenic
|
2019-04-17 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2018-08-01 | criteria provided, single submitter | Von Hippel-Lindau syndrome |
germline
|
Detail |
|
Pathogenic
|
2024-01-05 | criteria provided, single submitter | Chuvash polycythemia,Von Hippel-Lindau syndrome |
germline
|
Detail |
|
Pathogenic
|
2024-01-05 | criteria provided, single submitter | Chuvash polycythemia,Von Hippel-Lindau syndrome |
germline
|
Detail |
|
Pathogenic
Likely pathogenic
|
2023-08-24 | criteria provided, multiple submitters, no conflicts | not provided |
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 | 17661816 | Detail |
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.125 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail | |
| 0.416 | pheochromocytoma | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Molecular analysis of VHL gene in 146 probands, 103 with and 43 without a positive family history, r... | CIViC Evidence | Detail |
| NM_000551.4(VHL):c.191G>C (p.Arg64Pro) AND Pheochromocytoma | ClinVar | Detail |
| NM_000551.4(VHL):c.191G>C (p.Arg64Pro) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000551.4(VHL):c.191G>C (p.Arg64Pro) AND Von Hippel-Lindau syndrome | ClinVar | Detail |
| NM_000551.4(VHL):c.191G>C (p.Arg64Pro) AND multiple conditions | ClinVar | Detail |
| NM_000551.4(VHL):c.191G>C (p.Arg64Pro) AND multiple conditions | ClinVar | Detail |
| NM_000551.4(VHL):c.191G>C (p.Arg64Pro) AND not provided | ClinVar | Detail |
| NA | DisGeNET | 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
- rs104893826 dbSNP
- Genome
- hg38
- Position
- chr3:10,142,038-10,142,038
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- Variant (CIViC) (CIViC Variant)
- R64P (c.191G>C)
- Transcript 1 (CIViC Variant)
- ENST00000256474.2
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1867
Genome browser