chr5:33963765:C>T Detail (hg38) (SLC45A2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:33,963,870-33,963,870 View the variant detail on this assembly version. |
| hg38 | chr5:33,963,765-33,963,765 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_016180.4:c.814G>A | NP_057264.3:p.Glu272Lys |
| NM_001012509.3:c.814G>A | NP_001012527.1:p.Glu272Lys | |
| NM_001297417.2:c.563-9261G>A |
Summary
MGeND
| Clinical significance |
Benign
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.345 |
| ToMMo:0.322 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.393 |
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 |
unknown
|
MGS000082
(TMGS000165) |
Kenjiro Kosaki Kenjiro Kosaki |
Keio University Mutation View |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
association
|
2018-02-13 | no assertion criteria provided | Skin/hair/eye pigmentation, variation in, 5 |
germline
|
Detail |
|
Benign
|
2018-03-06 | criteria provided, single submitter | Oculocutaneous albinism type 4 |
germline
|
Detail |
|
Benign
|
2024-02-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Benign
|
2021-09-22 | criteria provided, single submitter | SLC45A2-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_016180.5(SLC45A2):c.814G>A (p.Glu272Lys) AND Skin/hair/eye pigmentation, variation in, 5 | ClinVar | Detail |
| NM_016180.5(SLC45A2):c.814G>A (p.Glu272Lys) AND Oculocutaneous albinism type 4 | ClinVar | Detail |
| NM_016180.5(SLC45A2):c.814G>A (p.Glu272Lys) AND not provided | ClinVar | Detail |
| NM_016180.5(SLC45A2):c.814G>A (p.Glu272Lys) AND SLC45A2-related disorder | 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
- rs26722 dbSNP
- Genome
- hg38
- Position
- chr5:33,963,765-33,963,765
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1209
- Mean of sample read depth (HGVD)
- 102.15
- Standard deviation of sample read depth (HGVD)
- 49.39
- Number of reference allele (HGVD)
- 1584
- Number of alternative allele (HGVD)
- 834
- Allele Frequency (HGVD)
- 0.34491315136476425
- Gene Symbol (HGVD)
- SLC45A2
- 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))
- rs26722
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3223
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5401
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8646
- East Asian Allele Counts (ExAC)
- 3402
- East Asian Heterozygous Counts (ExAC)
- 2048
- East Asian Homozygous Counts (ExAC)
- 677
- East Asian Allele Frequency (ExAC)
- 0.3934767522553782
- Chromosome Counts in All Race (ExAC)
- 120982
- Allele Counts in All Race (ExAC)
- 12943
- Heterozygous Counts in All Race (ExAC)
- 9119
- Homozygous Counts in All Race (ExAC)
- 1912
- Allele Frequency in All Race (ExAC)
- 0.10698285695392704
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