chrX:67723707:T>C Detail (hg38) (AR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrX:66,943,549-66,943,549 View the variant detail on this assembly version. |
| hg38 | chrX:67,723,707-67,723,707 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000044.3:c.2629T>C | NP_000035.2:p.Phe877Leu |
| Ensemble | ENST00000374690.9:c.2629T>C | ENST00000374690.9:p.Phe877Leu |
| ENST00000396044.8:c.2195T>C | ENST00000396044.8:p.Val732Ala |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
not provided
|
2016-03-10 | no assertion provided | Prostate neoplasm |
somatic
|
Detail |
|
Uncertain significance
|
2023-10-18 | criteria provided, single submitter | Androgen resistance syndrome,Kennedy disease |
germline
|
Detail |
|
Uncertain significance
|
2023-10-18 | criteria provided, single submitter | Androgen resistance syndrome,Kennedy disease |
germline
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| prostate cancer | Apalutamide,Enzalutamide | D |
Predictive
|
Supports
|
Resistance | Somatic | 4 | 23779130 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Mutations F876L in the ligand binding domain of the androgen receptor confered resistance to enzalut... | CIViC Evidence | Detail |
| NM_000044.6(AR):c.2629T>C (p.Phe877Leu) AND Prostate neoplasm | ClinVar | Detail |
| NM_000044.6(AR):c.2629T>C (p.Phe877Leu) AND multiple conditions | ClinVar | Detail |
| NM_000044.6(AR):c.2629T>C (p.Phe877Leu) AND multiple conditions | 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
- rs1057519864 dbSNP
- Genome
- hg38
- Position
- chrX:67,723,707-67,723,707
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Variant (CIViC) (CIViC Variant)
- F877L
- Transcript 1 (CIViC Variant)
- ENST00000374690.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/175
Genome browser