chr3:10142110:G>C Detail (hg38) (VHL)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:10,183,794-10,183,794 View the variant detail on this assembly version. |
| hg38 | chr3:10,142,110-10,142,110 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000551.3:c.263G>C | NP_000542.1:p.Trp88Ser |
| NM_198156.2:c.263G>C | NP_937799.1:p.Trp88Ser | |
| Ensemble | ENST00000256474.3:c.263G>C | ENST00000256474.3:p.Trp88Ser |
Summary
MGeND
| Clinical significance |
Likely pathogenic
Pathogenic
|
| Variant entry | 2 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Likely pathogenic
|
other |
germline
|
MGS000001
(TMGS000138) |
Kenjiro Kosaki | Keio University | ||||
|
Pathogenic
|
Von Hippel-Lindau Type 1 (pheochromocytoma) |
germline
|
MGS000001
(TMGS000162) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
1995-12-01 | no assertion criteria provided | Von Hippel-Lindau syndrome |
unknown
somatic
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| von Hippel-Lindau disease | C |
Predisposing
|
Supports
|
Uncertain Significance | Rare Germline | 3 | 9829912 | Detail |
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.658 | Von Hippel-Lindau syndrome | NA | CLINVAR | Detail | |
| 0.125 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found... | CIViC Evidence | Detail |
| NM_000551.4(VHL):c.263G>C (p.Trp88Ser) AND Von Hippel-Lindau syndrome | 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
- rs119103277 dbSNP
- Genome
- hg38
- Position
- chr3:10,142,110-10,142,110
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- Variant (CIViC) (CIViC Variant)
- W88S (c.263G>C)
- Transcript 1 (CIViC Variant)
- ENST00000256474.2
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1966
Genome browser