chr3:10146580:T>C Detail (hg38) (VHL, LOC107303340)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:10,188,264-10,188,264 View the variant detail on this assembly version. |
hg38 | chr3:10,146,580-10,146,580 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000551.3:c.407T>C | NP_000542.1:p.Phe136Ser |
NM_198156.2:c.341-3207T>C | ||
Ensemble | ENST00000256474.3:c.407T>C | ENST00000256474.3:p.Phe136Ser |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
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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2023-07-19 | criteria provided, multiple submitters, no conflicts | Von Hippel-Lindau syndrome |
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Detail |
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2016-11-17 | criteria provided, single submitter | not provided |
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Detail |
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2022-11-02 | criteria provided, single submitter | Chuvash polycythemia,Von Hippel-Lindau syndrome |
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Detail |
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2022-11-02 | criteria provided, single submitter | Chuvash polycythemia,Von Hippel-Lindau syndrome |
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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 | 2 | 21463266 | 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 | 3 | 12624160 | Detail | |
von Hippel-Lindau disease | C |
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Uncertain Significance | Rare Germline | 3 | 24132471 | Detail | |
von Hippel-Lindau disease | C |
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Uncertain Significance | Rare Germline | 1 | 26763786 | Detail |
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.416 | pheochromocytoma | Almost one fourth of patients with apparently sporadic pheochromocytoma may be c... | UNIPROT | 12000816 | Detail |
0.658 | Von Hippel-Lindau syndrome | The group of susceptibility genes for pheochromocytoma that included the proto-o... | UNIPROT | 12000816 | 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 |
In a study of 426 unrelated VHL patients, 111 were discovered to have alterations in the VHL gene. 1... | CIViC Evidence | Detail |
Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found... | CIViC Evidence | Detail |
Germline mutations were found in 20 Brazilian, VHL probands and their families. This missense mutati... | CIViC Evidence | Detail |
Data was collected from 82 VHL mutation carriers in the Dutch VHL surveillance program. One patient ... | CIViC Evidence | Detail |
A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy... | CIViC Evidence | Detail |
NM_000551.4(VHL):c.407T>C (p.Phe136Ser) AND Von Hippel-Lindau syndrome | ClinVar | Detail |
NM_000551.4(VHL):c.407T>C (p.Phe136Ser) AND not provided | ClinVar | Detail |
NM_000551.4(VHL):c.407T>C (p.Phe136Ser) AND multiple conditions | ClinVar | Detail |
NM_000551.4(VHL):c.407T>C (p.Phe136Ser) AND multiple conditions | ClinVar | Detail |
Almost one fourth of patients with apparently sporadic pheochromocytoma may be carriers of mutations... | DisGeNET | Detail |
The group of susceptibility genes for pheochromocytoma that included the proto-oncogene RET (associa... | 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
- rs5030833 dbSNP
- Genome
- hg38
- Position
- chr3:10,146,580-10,146,580
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121412
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.236418146476461E-6
- Variant (CIViC) (CIViC Variant)
- F136S (c.407T>C)
- Transcript 1 (CIViC Variant)
- ENST
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1801
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