chrX:66765158:T>A Detail (hg19) (AR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrX:66,765,158-66,765,158 |
| hg38 | chrX:67,545,316-67,545,316 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001348061.1:c.170T>A | NP_001334990.1:p.Leu57Gln |
| NM_000044.3:c.170T>A | NP_000035.2:p.Leu57Gln | |
| Ensemble | ENST00000396044.8:c.170T>A | ENST00000396044.8:p.Leu57Gln |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 25 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:<0.001 |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
Benign
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
Carcinoma of pancreas (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Carcinoma of breast (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Squamous cell carcinoma of esophagus (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Hormone receptor positive malignant neoplasm of breast (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Carcinoma of endocrine pancreas (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Squamous cell carcinoma of anal margin (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Chondrosarcoma (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Carcinoma of cervix (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Carcinoma |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Adenocarcinoma of pancreas |
unknown
|
MGS000022
(TMGS000081) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Carcinoma of pancreas (disorder) |
unknown
|
MGS000022
(TMGS000081) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Basal cell carcinoma - primary (disorder) |
unknown
|
MGS000023
(TMGS000082) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Carcinoma of pancreas (disorder) |
unknown
|
MGS000023
(TMGS000082) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Human epidermal growth factor 2 negative carcinoma of breast (disorder)_Hormone receptor negative neoplasm (disorder) |
unknown
|
MGS000023
(TMGS000082) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Primary malignant neoplasm of urethra (disorder) |
unknown
|
MGS000023
(TMGS000082) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Malignant tumor of salivary gland (disorder) |
unknown
|
MGS000023
(TMGS000082) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Adenocarcinoma of lung (disorder) |
unknown
|
MGS000024
(TMGS000083) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Small cell carcinoma (morphologic abnormality) |
unknown
|
MGS000024
(TMGS000083) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Cholangiocarcinoma of biliary tract (disorder) |
unknown
|
MGS000025
(TMGS000084) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Squamous cell carcinoma of cervix (disorder) |
unknown
|
MGS000025
(TMGS000084) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Adenocarcinoma of lung (disorder) |
unknown
|
MGS000025
(TMGS000084) |
Manabu Muto | Kyoto University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely benign
|
2019-06-21 | criteria provided, single submitter | not provided |
germline
unknown
|
Detail |
|
Likely benign
|
2024-01-31 | criteria provided, single submitter | Androgen resistance syndrome,Kennedy disease |
germline
|
Detail |
|
Likely benign
|
2024-01-31 | criteria provided, single submitter | Androgen resistance syndrome,Kennedy disease |
germline
|
Detail |
|
Benign
|
2022-01-01 | criteria provided, single submitter | ovarian cancer |
germline
|
Detail |
|
Likely benign
|
2023-06-14 | criteria provided, single submitter | not specified |
germline
|
Detail |
|
Likely benign
|
2021-08-10 | criteria provided, single submitter | AR-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000044.6(AR):c.170T>A (p.Leu57Gln) AND not provided | ClinVar | Detail |
| NM_000044.6(AR):c.170T>A (p.Leu57Gln) AND multiple conditions | ClinVar | Detail |
| NM_000044.6(AR):c.170T>A (p.Leu57Gln) AND multiple conditions | ClinVar | Detail |
| NM_000044.6(AR):c.170T>A (p.Leu57Gln) AND Ovarian cancer | ClinVar | Detail |
| NM_000044.6(AR):c.170T>A (p.Leu57Gln) AND not specified | ClinVar | Detail |
| NM_000044.6(AR):c.170T>A (p.Leu57Gln) AND AR-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
- rs78686797 dbSNP
- Genome
- hg19
- Position
- chrX:66,765,158-66,765,158
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 1058
- Mean of sample read depth (HGVD)
- 42.44
- Standard deviation of sample read depth (HGVD)
- 22.12
- Number of reference allele (HGVD)
- 1129
- Number of alternative allele (HGVD)
- 1
- Allele Frequency (HGVD)
- 8.849557522123894E-4
- Gene Symbol (HGVD)
- AR
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