chr14:35308904:T>G Detail (hg38) (PSMA6, PRORP-PSMA6)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:35,778,110-35,778,110 View the variant detail on this assembly version. |
| hg38 | chr14:35,308,904-35,308,904 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001282232.1:c.172-10T>G | |
| NM_002791.2:c.172-10T>G | ||
| NM_001282234.1:c.115-10T>G |
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 |
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely benign
|
2019-03-22 | criteria provided, single submitter | PSMA6-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_002791.3(PSMA6):c.172-10T>G AND PSMA6-related disorder | ClinVar | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg38
- Position
- chr14:35,308,904-35,308,904
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8622
- 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)
- 119870
- Allele Counts in All Race (ExAC)
- 103
- Heterozygous Counts in All Race (ExAC)
- 103
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.592642028864603E-4
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