chr6:43524840:G>A Detail (hg38) (POLR1C, XPO5)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr6:43,492,578-43,492,578 View the variant detail on this assembly version. |
hg38 | chr6:43,524,840-43,524,840 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001318876.1:c.922+3792G>A | |
Ensemble | ENST00000304004.7:c.922+3792G>A | |
ENST00000607635.2:c.922+3792G>A |
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_020750.2:c.3303C>T | NP_065801.1:p.Tyr1101= |
Ensemble | ENST00000265351.12:c.3303C>T | ENST00000265351.12:p.Tyr1101= |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.618 |
ToMMo:0.597 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.629 |
Prediction
ClinVar
Clinical Significance |
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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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2024-01-31 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | Turner syndrome | A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... | BeFree | 23549446 | Detail |
<0.001 | Turner syndrome | A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... | BeFree | 23549446 | Detail |
<0.001 | Ovarian Failure, Premature | A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... | BeFree | 23549446 | Detail |
<0.001 | Turner syndrome | A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... | BeFree | 23549446 | Detail |
0.003 | Ovarian Failure, Premature | A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... | BeFree | 23549446 | Detail |
<0.001 | Turner syndrome | A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... | BeFree | 23549446 | Detail |
<0.001 | Ovarian Failure, Premature | A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... | BeFree | 23549446 | Detail |
<0.001 | Ovarian Failure, Premature | A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... | BeFree | 23549446 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_020750.3(XPO5):c.3303C>T (p.Tyr1101=) AND not provided | ClinVar | Detail |
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... | DisGeNET | Detail |
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... | DisGeNET | Detail |
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... | DisGeNET | Detail |
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... | DisGeNET | Detail |
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... | DisGeNET | Detail |
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... | DisGeNET | Detail |
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... | DisGeNET | Detail |
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... | 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
- rs2257082 dbSNP
- Genome
- hg38
- Position
- chr6:43,524,840-43,524,840
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1068
- Mean of sample read depth (HGVD)
- 16.63
- Standard deviation of sample read depth (HGVD)
- 13.28
- Number of reference allele (HGVD)
- 816
- Number of alternative allele (HGVD)
- 1319
- Allele Frequency (HGVD)
- 0.6177985948477752
- Gene Symbol (HGVD)
- XPO5
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs2257082
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5973
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 10011
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8602
- East Asian Allele Counts (ExAC)
- 5412
- East Asian Heterozygous Counts (ExAC)
- 2026
- East Asian Homozygous Counts (ExAC)
- 1693
- East Asian Allele Frequency (ExAC)
- 0.629156010230179
- Chromosome Counts in All Race (ExAC)
- 120474
- Allele Counts in All Race (ExAC)
- 35519
- Heterozygous Counts in All Race (ExAC)
- 23687
- Homozygous Counts in All Race (ExAC)
- 5916
- Allele Frequency in All Race (ExAC)
- 0.29482709962315523
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