chrX:9711595:G>C Detail (hg19) (GPR143)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrX:9,711,595-9,711,595 |
| hg38 | chrX:9,743,555-9,743,555 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000273.2:c.767+10C>G | |
| Ensemble | ENST00000467482.6:c.767+10C>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.193 |
| ToMMo:0.205 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.234 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
criteria provided, single submitter | not specified |
germline
|
Detail | |
|
Benign
|
2024-01-31 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Benign
|
2021-08-10 | criteria provided, single submitter | Ocular albinism, type I |
germline
|
Detail |
|
Benign
|
2021-08-10 | criteria provided, single submitter | Nystagmus 6, congenital, X-linked |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000273.3(GPR143):c.767+10C>G AND not specified | ClinVar | Detail |
| NM_000273.3(GPR143):c.767+10C>G AND not provided | ClinVar | Detail |
| NM_000273.3(GPR143):c.767+10C>G AND Ocular albinism, type I | ClinVar | Detail |
| NM_000273.3(GPR143):c.767+10C>G AND Nystagmus 6, congenital, X-linked | ClinVar | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs3788938 dbSNP
- Genome
- hg19
- Position
- chrX:9,711,595-9,711,595
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1170
- Mean of sample read depth (HGVD)
- 33.60
- Standard deviation of sample read depth (HGVD)
- 19.07
- Number of reference allele (HGVD)
- 1889
- Number of alternative allele (HGVD)
- 451
- Allele Frequency (HGVD)
- 0.19273504273504274
- Gene Symbol (HGVD)
- GPR143
- 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))
- rs3788938
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2048
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2630
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12843
- East Asian Chromosome Counts (ExAC)
- 6566
- East Asian Allele Counts (ExAC)
- 1538
- East Asian Heterozygous Counts (ExAC)
- 812
- East Asian Homozygous Counts (ExAC)
- 123
- East Asian Allele Frequency (ExAC)
- 0.23423697837343893
- Chromosome Counts in All Race (ExAC)
- 87056
- Allele Counts in All Race (ExAC)
- 17981
- Heterozygous Counts in All Race (ExAC)
- 8024
- Homozygous Counts in All Race (ExAC)
- 1232
- Allele Frequency in All Race (ExAC)
- 0.20654521227715494
- East Asian Hemizygous Counts (ExAC)
- 480
- Hemizygous Counts in All Race (ExAC)
- 7493
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