chr3:10188233:G>A Detail (hg19) (VHL, LOC107303340)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:10,188,233-10,188,233 |
hg38 | chr3:10,146,549-10,146,549 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000551.3:c.376G>A | NP_000542.1:p.Asp126Asn |
NM_198156.2:c.341-3238G>A | ||
Ensemble | ENST00000256474.3:c.376G>A | ENST00000256474.3:p.Asp126Asn |
Summary
MGeND
Clinical significance | |
Variant entry | |
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 | Conflicting classifications of pathogenicity |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2020-09-17 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2023-12-20 | criteria provided, single submitter | Chuvash polycythemia,Von Hippel-Lindau syndrome |
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Detail |
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2023-12-20 | criteria provided, single submitter | Chuvash polycythemia,Von Hippel-Lindau syndrome |
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Detail |
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2023-11-02 | criteria provided, multiple submitters, no conflicts | Von Hippel-Lindau syndrome |
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Detail |
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2022-12-30 | criteria provided, conflicting interpretations | not provided |
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Detail |
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2024-03-29 | criteria provided, single submitter | Chuvash polycythemia |
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Detail |
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2023-02-22 | criteria provided, single submitter | not specified |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.560 | ERYTHROCYTOSIS, FAMILIAL, 2 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000551.4(VHL):c.376G>A (p.Asp126Asn) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000551.4(VHL):c.376G>A (p.Asp126Asn) AND multiple conditions | ClinVar | Detail |
NM_000551.4(VHL):c.376G>A (p.Asp126Asn) AND multiple conditions | ClinVar | Detail |
NM_000551.4(VHL):c.376G>A (p.Asp126Asn) AND Von Hippel-Lindau syndrome | ClinVar | Detail |
NM_000551.4(VHL):c.376G>A (p.Asp126Asn) AND not provided | ClinVar | Detail |
NM_000551.4(VHL):c.376G>A (p.Asp126Asn) AND Chuvash polycythemia | ClinVar | Detail |
NM_000551.4(VHL):c.376G>A (p.Asp126Asn) AND not specified | ClinVar | Detail |
NA | 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
- rs104893831 dbSNP
- Genome
- hg19
- Position
- chr3:10,188,233-10,188,233
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- 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)
- 5
- Heterozygous Counts in All Race (ExAC)
- 5
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 4.11820907323823E-5
- Variant (CIViC) (CIViC Variant)
- D126N (c.376G>A)
- Transcript 1 (CIViC Variant)
- ENST00000256474.2
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2533
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