chr15:28090173:C>T Detail (hg19) (OCA2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr15:28,090,173-28,090,173 |
| hg38 | chr15:27,845,027-27,845,027 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000275.2:c.2364G>A | NP_000266.2:p.Ser788= |
| NM_001300984.1:c.2292G>A | NP_001287913.1:p.Ser764= | |
| Ensemble | ENST00000354638.8:c.2364G>A | ENST00000354638.8:p.Ser788= |
Summary
MGeND
| Clinical significance |
Benign
|
| Variant entry | 3 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.614 |
| ToMMo:0.612 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.565 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Benign
|
oculocutaneous albinism type 2 |
germline
|
MGS000082
(TMGS000165) |
Kenjiro Kosaki Kenjiro Kosaki |
Keio University Mutation View |
||||
|
Benign
|
Angelman syndrome |
germline
|
MGS000082
(TMGS000165) |
Kenjiro Kosaki Kenjiro Kosaki |
Keio University Mutation View |
||||
|
Benign
|
albino |
germline
|
MGS000082
(TMGS000165) |
Kenjiro Kosaki Kenjiro Kosaki |
Keio University Mutation View |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
criteria provided, single submitter | not specified |
germline
|
Detail | |
|
Benign
|
2021-09-05 | criteria provided, multiple submitters, no conflicts | Tyrosinase-positive oculocutaneous albinism |
germline
|
Detail |
|
Benign
|
2024-02-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000275.3(OCA2):c.2364G>A (p.Ser788=) AND not specified | ClinVar | Detail |
| NM_000275.3(OCA2):c.2364G>A (p.Ser788=) AND Tyrosinase-positive oculocutaneous albinism | ClinVar | Detail |
| NM_000275.3(OCA2):c.2364G>A (p.Ser788=) AND not provided | ClinVar | 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
- rs12592307 dbSNP
- Genome
- hg19
- Position
- chr15:28,090,173-28,090,173
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1181
- Mean of sample read depth (HGVD)
- 44.41
- Standard deviation of sample read depth (HGVD)
- 22.35
- Number of reference allele (HGVD)
- 912
- Number of alternative allele (HGVD)
- 1450
- Allele Frequency (HGVD)
- 0.6138865368331922
- Gene Symbol (HGVD)
- OCA2
- 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))
- rs12592307
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6123
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 10262
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8634
- East Asian Allele Counts (ExAC)
- 4879
- East Asian Heterozygous Counts (ExAC)
- 2087
- East Asian Homozygous Counts (ExAC)
- 1396
- East Asian Allele Frequency (ExAC)
- 0.5650914987259671
- Chromosome Counts in All Race (ExAC)
- 121246
- Allele Counts in All Race (ExAC)
- 31785
- Heterozygous Counts in All Race (ExAC)
- 21367
- Homozygous Counts in All Race (ExAC)
- 5209
- Allele Frequency in All Race (ExAC)
- 0.2621529782425812
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