chr3:10188210:T>C Detail (hg19) (VHL, LOC107303340)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:10,188,210-10,188,210 |
hg38 | chr3:10,146,526-10,146,526 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000551.3:c.353T>C | NP_000542.1:p.Leu118Pro |
NM_198156.2:c.341-3261T>C | ||
Ensemble | ENST00000256474.3:c.353T>C | ENST00000256474.3:p.Leu118Pro |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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other |
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MGS000001
(TMGS000138) |
Kenjiro Kosaki | Keio University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2018-10-02 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2022-01-18 | criteria provided, single submitter | Chuvash polycythemia,Von Hippel-Lindau syndrome |
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Detail |
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2022-01-18 | criteria provided, single submitter | Chuvash polycythemia,Von Hippel-Lindau syndrome |
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Detail |
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no assertion criteria provided | not provided |
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Detail |
CIViC
Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
---|---|---|---|---|---|---|---|---|---|
von Hippel-Lindau disease | C |
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Uncertain Significance | Rare Germline | 3 | 7987306 | Detail | |
von Hippel-Lindau disease | C |
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Uncertain Significance | Rare Germline | 4 | 17024664 | Detail | |
von Hippel-Lindau disease | C |
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Uncertain Significance | Rare Germline | 3 | 9829912 | Detail | |
von Hippel-Lindau disease | C |
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Uncertain Significance | Rare Germline | 2 | 11409863 | Detail | |
von Hippel-Lindau disease | C |
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Uncertain Significance | Rare Germline | 2 | 20846682 | Detail |
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
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 |
---|---|---|
An investigation of 94 VHL patients without large deletions for intragenic mutations revealed 40 dif... | CIViC Evidence | Detail |
Genotype-phenotype correlations of 573 VHL patients were analyzed and confirmed that higher risk of ... | CIViC Evidence | Detail |
Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found... | CIViC Evidence | Detail |
43 unrelated VHL patients with previously sequenced VHL germline mutations and 36 suspected VHL muta... | CIViC Evidence | Detail |
26 VHL patients from 18 families, who had undergone a partial adrenalectomy for pheochromocytoma wer... | CIViC Evidence | Detail |
NM_000551.4(VHL):c.353T>C (p.Leu118Pro) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000551.4(VHL):c.353T>C (p.Leu118Pro) AND multiple conditions | ClinVar | Detail |
NM_000551.4(VHL):c.353T>C (p.Leu118Pro) AND multiple conditions | ClinVar | Detail |
NM_000551.4(VHL):c.353T>C (p.Leu118Pro) AND not provided | ClinVar | 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 |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs5030830 dbSNP
- Genome
- hg19
- Position
- chr3:10,188,210-10,188,210
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Variant (CIViC) (CIViC Variant)
- L118P (c.353T>C)
- Transcript 1 (CIViC Variant)
- ENST00
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1798
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