chr2:31580756:C>T Detail (hg38) (SRD5A2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:31,805,826-31,805,826 View the variant detail on this assembly version. |
| hg38 | chr2:31,580,756-31,580,756 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000348.3:c.145G>A | NP_000339.2:p.Ala49Thr |
| Ensemble | ENST00000622030.2:c.145G>A | ENST00000622030.2:p.Ala49Thr |
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 |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2008-08-15 | no assertion criteria provided | STEROID 5-ALPHA-REDUCTASE POLYMORPHISM |
germline
|
Detail |
|
Benign
|
2015-03-03 | criteria provided, single submitter | not provided |
germline
not provided
|
Detail |
|
Benign
|
2024-02-01 | criteria provided, multiple submitters, no conflicts | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.016 | prostate carcinoma | Our results do not support the hypothesis that the V89L and A49T polymorphisms i... | BeFree | 12712437 | Detail |
| 0.003 | Malignant neoplasm of prostate | The aim of the present study was to evaluate the distribution of polymorphisms f... | BeFree | 11847524 | Detail |
| 0.016 | prostate carcinoma | The prostate is an androgen-regulated organ and polymorphisms in genes involved ... | BeFree | 14991867 | Detail |
| 0.003 | Malignant neoplasm of prostate | The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN... | BeFree | 16039774 | Detail |
| <0.001 | Alcoholic Intoxication, Chronic | In this study, we explored whether functionally relevant genetic polymorphisms i... | BeFree | 22707254 | Detail |
| <0.001 | Benign Prostatic Hyperplasia | The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN... | BeFree | 16039774 | Detail |
| 0.004 | prostate carcinoma | The prostate is an androgen-regulated organ and polymorphisms in genes involved ... | BeFree | 14991867 | Detail |
| 0.010 | prostate carcinoma | Cytosine-adenine-guanine repeat length of the androgen receptor gene and the A49... | BeFree | 12210487 | Detail |
| 0.016 | prostate carcinoma | The SRD5A2 high-activity allele variants A49T AT and V89L LL were more frequent ... | BeFree | 16039774 | Detail |
| 0.016 | prostate carcinoma | The aim of the present study was to evaluate the distribution of polymorphisms f... | BeFree | 11847524 | Detail |
| 0.096 | Malignant neoplasm of prostate | The aim of the present study was to evaluate the distribution of polymorphisms f... | BeFree | 11847524 | Detail |
| 0.096 | Malignant neoplasm of prostate | The aim of the present study was to evaluate the distribution of polymorphisms f... | BeFree | 11847524 | Detail |
| 0.016 | prostate carcinoma | Steroid 5-alpha-reductase type 2 (SRD5A2) V89L and A49T polymorphisms and sporad... | BeFree | 23277398 | Detail |
| 0.003 | prostate carcinoma | The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN... | BeFree | 16039774 | Detail |
| 0.280 | Malignant neoplasm of prostate | The aim of the present study was to evaluate the distribution of polymorphisms f... | BeFree | 11847524 | Detail |
| 0.016 | prostate carcinoma | The aim of the present study was to evaluate the distribution of polymorphisms f... | BeFree | 11847524 | Detail |
| 0.017 | Malignant neoplasm of prostate | Cytosine-adenine-guanine repeat length of the androgen receptor gene and the A49... | BeFree | 12210487 | Detail |
| 0.096 | Malignant neoplasm of prostate | Steroid 5-alpha-reductase type 2 (SRD5A2) V89L and A49T polymorphisms and sporad... | BeFree | 23277398 | Detail |
| 0.096 | Malignant neoplasm of prostate | The SRD5A2 high-activity allele variants A49T AT and V89L LL were more frequent ... | BeFree | 16039774 | Detail |
| 0.080 | prostate carcinoma | The aim of the present study was to evaluate the distribution of polymorphisms f... | BeFree | 11847524 | Detail |
| 0.004 | Malignant neoplasm of prostate | The prostate is an androgen-regulated organ and polymorphisms in genes involved ... | BeFree | 14991867 | Detail |
| 0.096 | Malignant neoplasm of prostate | Longer (TA)n repeat but not A49T and V89L polymorphisms in SRD5A2 gene may confe... | BeFree | 19443907 | Detail |
| 0.016 | prostate carcinoma | Longer (TA)n repeat but not A49T and V89L polymorphisms in SRD5A2 gene may confe... | BeFree | 19443907 | Detail |
| 0.011 | Benign Prostatic Hyperplasia | The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN... | BeFree | 16039774 | Detail |
| 0.096 | Malignant neoplasm of prostate | The prostate is an androgen-regulated organ and polymorphisms in genes involved ... | BeFree | 14991867 | Detail |
| 0.096 | Malignant neoplasm of prostate | Our results do not support the hypothesis that the V89L and A49T polymorphisms i... | BeFree | 12712437 | Detail |
| 0.003 | prostate carcinoma | The aim of the present study was to evaluate the distribution of polymorphisms f... | BeFree | 11847524 | Detail |
| 0.096 | Malignant neoplasm of prostate | Our study provides evidence that the SRD5A2 A49T A variant is associated with an... | BeFree | 17136762 | Detail |
| 0.016 | prostate carcinoma | No association between the SRD5A2 gene A49T missense variant and prostate cancer... | BeFree | 18469342 | Detail |
| 0.016 | prostate carcinoma | Our study provides evidence that the SRD5A2 A49T A variant is associated with an... | BeFree | 17136762 | Detail |
| 0.096 | Malignant neoplasm of prostate | No association between the SRD5A2 gene A49T missense variant and prostate cancer... | BeFree | 18469342 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000348.4(SRD5A2):c.145G>A (p.Ala49Thr) AND STEROID 5-ALPHA-REDUCTASE POLYMORPHISM | ClinVar | Detail |
| NM_000348.4(SRD5A2):c.145G>A (p.Ala49Thr) AND not provided | ClinVar | Detail |
| NM_000348.4(SRD5A2):c.145G>A (p.Ala49Thr) AND 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | ClinVar | Detail |
| Our results do not support the hypothesis that the V89L and A49T polymorphisms in the SRD5A2 gene ar... | DisGeNET | Detail |
| The aim of the present study was to evaluate the distribution of polymorphisms for the androgen rece... | DisGeNET | Detail |
| The prostate is an androgen-regulated organ and polymorphisms in genes involved in testosterone synt... | DisGeNET | Detail |
| The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN repeats and sex hor... | DisGeNET | Detail |
| In this study, we explored whether functionally relevant genetic polymorphisms in SRD5A2 (V89L, A49T... | DisGeNET | Detail |
| The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN repeats and sex hor... | DisGeNET | Detail |
| The prostate is an androgen-regulated organ and polymorphisms in genes involved in testosterone synt... | DisGeNET | Detail |
| Cytosine-adenine-guanine repeat length of the androgen receptor gene and the A49T and V89L polymorph... | DisGeNET | Detail |
| The SRD5A2 high-activity allele variants A49T AT and V89L LL were more frequent in CaP-patients comp... | DisGeNET | Detail |
| The aim of the present study was to evaluate the distribution of polymorphisms for the androgen rece... | DisGeNET | Detail |
| The aim of the present study was to evaluate the distribution of polymorphisms for the androgen rece... | DisGeNET | Detail |
| The aim of the present study was to evaluate the distribution of polymorphisms for the androgen rece... | DisGeNET | Detail |
| Steroid 5-alpha-reductase type 2 (SRD5A2) V89L and A49T polymorphisms and sporadic prostate cancer r... | DisGeNET | Detail |
| The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN repeats and sex hor... | DisGeNET | Detail |
| The aim of the present study was to evaluate the distribution of polymorphisms for the androgen rece... | DisGeNET | Detail |
| The aim of the present study was to evaluate the distribution of polymorphisms for the androgen rece... | DisGeNET | Detail |
| Cytosine-adenine-guanine repeat length of the androgen receptor gene and the A49T and V89L polymorph... | DisGeNET | Detail |
| Steroid 5-alpha-reductase type 2 (SRD5A2) V89L and A49T polymorphisms and sporadic prostate cancer r... | DisGeNET | Detail |
| The SRD5A2 high-activity allele variants A49T AT and V89L LL were more frequent in CaP-patients comp... | DisGeNET | Detail |
| The aim of the present study was to evaluate the distribution of polymorphisms for the androgen rece... | DisGeNET | Detail |
| The prostate is an androgen-regulated organ and polymorphisms in genes involved in testosterone synt... | DisGeNET | Detail |
| Longer (TA)n repeat but not A49T and V89L polymorphisms in SRD5A2 gene may confer prostate cancer ri... | DisGeNET | Detail |
| Longer (TA)n repeat but not A49T and V89L polymorphisms in SRD5A2 gene may confer prostate cancer ri... | DisGeNET | Detail |
| The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN repeats and sex hor... | DisGeNET | Detail |
| The prostate is an androgen-regulated organ and polymorphisms in genes involved in testosterone synt... | DisGeNET | Detail |
| Our results do not support the hypothesis that the V89L and A49T polymorphisms in the SRD5A2 gene ar... | DisGeNET | Detail |
| The aim of the present study was to evaluate the distribution of polymorphisms for the androgen rece... | DisGeNET | Detail |
| Our study provides evidence that the SRD5A2 A49T A variant is associated with an increased risk of p... | DisGeNET | Detail |
| No association between the SRD5A2 gene A49T missense variant and prostate cancer risk: lessons learn... | DisGeNET | Detail |
| Our study provides evidence that the SRD5A2 A49T A variant is associated with an increased risk of p... | DisGeNET | Detail |
| No association between the SRD5A2 gene A49T missense variant and prostate cancer risk: lessons learn... | 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
- rs9282858 dbSNP
- Genome
- hg38
- Position
- chr2:31,580,756-31,580,756
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8054
- 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)
- 108236
- Allele Counts in All Race (ExAC)
- 1853
- Heterozygous Counts in All Race (ExAC)
- 1801
- Homozygous Counts in All Race (ExAC)
- 26
- Allele Frequency in All Race (ExAC)
- 0.017119997043497544
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