chr9:130872181:A>T Detail (hg38) (ABL1)

Information

Genome

Assembly Position
hg19 chr9:133,747,568-133,747,568 View the variant detail on this assembly version.
hg38 chr9:130,872,181-130,872,181

HGVS

Type Transcript Protein
RefSeq NM_005157.5:c.875A>T NP_005148.2:p.Glu292Val
NM_007313.2:c.932A>T NP_009297.2:p.Glu311Val
Ensemble ENST00000318560.6:c.875A>T ENST00000318560.6:p.Glu292Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 189980 OMIM
HGNC 76 HGNC
Ensembl ENSG00000097007 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2022-11-05 criteria provided, single submitter Congenital heart defects and skeletal malformations syndrome unknown Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
chronic myeloid leukemia Nilotinib D Predictive Supports Resistance Somatic 2 16772610 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In an in vitro study, a Ba/F3-p210BCR-ABL1 cell line was ENU-mutated and exposed to graded concentra... CIViC Evidence Detail
NM_005157.6(ABL1):c.875A>T (p.Glu292Val) AND Congenital heart defects and skeletal malformations syn... 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
-
Genome
hg38
Position
chr9:130,872,181-130,872,181
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Variant (CIViC) (CIViC Variant)
E292V
Transcript 1 (CIViC Variant)
ENST00000318560.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1183
Genome browser