chrX:101356177:A>T Detail (hg38) (BTK)
Information
Genome
Assembly | Position |
---|---|
hg19 | chrX:100,611,165-100,611,165 View the variant detail on this assembly version. |
hg38 | chrX:101,356,177-101,356,177 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000061.2:c.1441T>A | NP_000052.1:p.Cys481Ser |
NM_001287344.1:c.1543T>A | NP_001274273.1:p.Cys515Ser | |
Ensemble | ENST00000308731.8:c.1441T>A | ENST00000308731.8:p.Cys481Ser |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance | Conflicting classifications of pathogenicity |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2016-03-10 | no assertion provided | B-cell chronic lymphocytic leukemia |
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Detail |
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2014-12-26 | no assertion criteria provided | Breast neoplasm |
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Detail |
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2019-10-25 | criteria provided, single submitter | X-linked agammaglobulinemia with growth hormone deficiency |
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Detail |
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2017-08-18 | criteria provided, single submitter | not provided |
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Detail |
CIViC
Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
---|---|---|---|---|---|---|---|---|---|
chronic lymphocytic leukemia | Ibrutinib | B |
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Resistance | Somatic | 4 | 26182309 | Detail |
chronic lymphocytic leukemia | Ibrutinib | B |
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Resistance | Somatic | 4 | 24869598 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
In a trial of 308 patients with chronic lymphocytic leukemia treated with ibrutinib, 31 discontinued... | CIViC Evidence | Detail |
Whole exome sequencing of 6 chronic lymphocytic leukemia patients with acquired resistance to ibruti... | CIViC Evidence | Detail |
NM_000061.3(BTK):c.1441T>A (p.Cys481Ser) AND B-cell chronic lymphocytic leukemia | ClinVar | Detail |
NM_000061.3(BTK):c.1441T>A (p.Cys481Ser) AND Breast neoplasm | ClinVar | Detail |
NM_000061.3(BTK):c.1441T>A (p.Cys481Ser) AND X-linked agammaglobulinemia with growth hormone deficie... | ClinVar | Detail |
NM_000061.3(BTK):c.1441T>A (p.Cys481Ser) AND not provided | ClinVar | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs1057519826 dbSNP
- Genome
- hg38
- Position
- chrX:101,356,177-101,356,177
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
- Variant (CIViC) (CIViC Variant)
- C481S
- Transcript 1 (CIViC Variant)
- ENST00000308731.7
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/168
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