chr3:10188201:A>G 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>G | NP_000542.1:p.His115Arg |
NM_198156.2:c.341-3270A>G | ||
Ensemble | ENST00000696153.1:c.344A>G | ENST00000696153.1:p.His115Arg |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2023-08-04 | criteria provided, single submitter | Von Hippel-Lindau syndrome,Chuvash polycythemia |
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Detail |
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2023-08-04 | criteria provided, single submitter | Von Hippel-Lindau syndrome,Chuvash polycythemia |
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Detail |
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2022-11-16 | criteria provided, single submitter | Hereditary cancer-predisposing 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 | 2 | 8707293 | Detail | |
von Hippel-Lindau disease | C |
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Uncertain Significance | Rare Germline | 2 | 22357542 | 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 |
---|---|---|
Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mu... | CIViC Evidence | Detail |
Mutational analysis for 16 patients with clinically diagnosed VHL disease, revealed 12 germline muta... | CIViC Evidence | Detail |
NM_000551.4(VHL):c.344A>G (p.His115Arg) AND multiple conditions | ClinVar | Detail |
NM_000551.4(VHL):c.344A>G (p.His115Arg) AND multiple conditions | ClinVar | Detail |
NM_000551.4(VHL):c.344A>G (p.His115Arg) 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 |
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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
- G
- Variant (CIViC) (CIViC Variant)
- H115R (c.344A>G)
- Transcript 1 (CIViC Variant)
- ENST00000256474.2
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2000
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