chr1:27057658:C>T Detail (hg19) (ARID1A)

Information

Genome

Assembly Position
hg19 chr1:27,057,658-27,057,658
hg38 chr1:26,731,167-26,731,167 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_006015.4:c.1366C>T NP_006006.3:p.Gln456Ter
NM_139135.2:c.1366C>T NP_624361.1:p.Gln456Ter
Ensemble ENST00000324856.13:c.1366C>T ENST00000324856.13:p.Gln456Ter
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 603024 OMIM
HGNC 11110 HGNC
Ensembl ENSG00000117713 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM51447 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
ovarian clear cell carcinoma Dasatinib D Predictive Supports Sensitivity/Response Somatic 27364904 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In an in vitro study, a HCT116 cell line expressing ARID1A Q456* mutation demonstrated increased sen... 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
chr1:27,057,658-27,057,658
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Variant (CIViC) (CIViC Variant)
Q456*
Transcript 1 (CIViC Variant)
ENST00000324856.7
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1510
Genome browser