chrX:100613633:T>C Detail (hg19) (BTK)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrX:100,613,633-100,613,633 |
| hg38 | chrX:101,358,645-101,358,645 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000061.2:c.946A>G | NP_000052.1:p.Thr316Ala |
| NM_001287344.1:c.1048A>G | NP_001274273.1:p.Thr350Ala | |
| Ensemble | ENST00000308731.8:c.946A>G | ENST00000308731.8:p.Thr316Ala |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
immunodeficiency (select examples) |
germline
|
MGS000001
(TMGS000154) |
Kenjiro Kosaki | Keio University |
ClinVar
[No Data.]
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| chronic lymphocytic leukemia | Ibrutinib | C |
Predictive
|
Supports
|
Resistance | Somatic | 4 | 27626698 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Case report of a patient with CLL and Richter-transformed relapse under ibrutinib (after an initial ... | CIViC Evidence | 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
- -
- Genome
- hg19
- Position
- chrX:100,613,633-100,613,633
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Variant (CIViC) (CIViC Variant)
- T316A
- Transcript 1 (CIViC Variant)
- ENST00000308731.7
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/870
Genome browser