chr3:10149856:T>A Detail (hg38) (VHL, LOC107303340)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:10,191,540-10,191,540 View the variant detail on this assembly version. |
hg38 | chr3:10,149,856-10,149,856 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000551.3:c.533T>A | NP_000542.1:p.Leu178Gln |
NM_198156.2:c.410T>A | NP_937799.1:p.Leu137Gln | |
Ensemble | ENST00000256474.3:c.533T>A | ENST00000256474.3:p.Leu178Gln |
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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2018-08-01 | criteria provided, single submitter | 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 | 2 | 8707293 | Detail | |
von Hippel-Lindau disease | B |
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N/A | N/A | Rare Germline | 3 | 11850829 | Detail |
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.658 | Von Hippel-Lindau syndrome | NA | CLINVAR | 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 |
36 VHL-related pheochromocytomas (from 21 patients) and 10 VHL-related CNS hemangioblastomas (from 6... | CIViC Evidence | Detail |
NM_000551.4(VHL):c.533T>A (p.Leu178Gln) AND Von Hippel-Lindau syndrome | ClinVar | Detail |
NA | 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
- rs5030822 dbSNP
- Genome
- hg38
- Position
- chr3:10,149,856-10,149,856
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- A
- Variant (CIViC) (CIViC Variant)
- L178Q (c.533T>A)
- Transcript 1 (CIViC Variant)
- ENST000002564742
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1997
Genome browser