chr3:10188201:A>C Detail (hg19) (VHL, LOC107303340)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:10,188,201-10,188,201 |
hg38 | chr3:10,146,517-10,146,517 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000551.3:c.344A>C | NP_000542.1:p.His115Pro |
NM_198156.2:c.341-3270A>C | ||
Ensemble | ENST00000696143.2:c.*18-3270A>C |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
CIViC
Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
---|---|---|---|---|---|---|---|---|---|
von Hippel-Lindau disease | C |
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Uncertain Significance | Rare Germline | 4 | 17024664 | Detail |
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.658 | Von Hippel-Lindau syndrome | NA | CLINVAR | Detail | |
0.658 | Von Hippel-Lindau syndrome | Based on this work, we propose that the nsSNP with a SNPid of rs5030812 is an im... | BeFree | 18836774 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Genotype-phenotype correlations of 573 VHL patients were analyzed and confirmed that higher risk of ... | CIViC Evidence | Detail |
NM_000551.4(VHL):c.344A>C (p.His115Pro) AND not provided | ClinVar | Detail |
NM_000551.4(VHL):c.344A>C (p.His115Pro) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NA | DisGeNET | Detail |
Based on this work, we propose that the nsSNP with a SNPid of rs5030812 is an important candidate fo... | 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
- rs5030812 dbSNP
- Genome
- hg19
- Position
- chr3:10,188,201-10,188,201
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
- Variant (CIViC) (CIViC Variant)
- H115P (c.344A>C)
- Transcript 1 (CIViC Variant)
- ENST00000256474.2
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1885
Genome browser