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
Links
Type Database ID Link
Gene MIM 300300 OMIM
HGNC 1133 HGNC
Ensembl ENSG00000010671 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM6053937 COSMIC
MONDO
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 B-cell chronic lymphocytic leukemia somatic Detail
Likely pathogenic 2014-12-26 no assertion criteria provided Breast neoplasm somatic Detail
Uncertain significance 2019-10-25 criteria provided, single submitter X-linked agammaglobulinemia with growth hormone deficiency germline Detail
Pathogenic 2017-08-18 criteria provided, single submitter not provided germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
chronic lymphocytic leukemia Ibrutinib B Predictive Supports Resistance Somatic 4 26182309 Detail
chronic lymphocytic leukemia Ibrutinib B Predictive Supports Resistance Somatic 4 24869598 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
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

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
Genome browser