chr9:130872944:A>G Detail (hg38) (ABL1)

Information

Genome

Assembly Position
hg19 chr9:133,748,331-133,748,331 View the variant detail on this assembly version.
hg38 chr9:130,872,944-130,872,944

HGVS

Type Transcript Protein
RefSeq NM_005157.5:c.992A>G NP_005148.2:p.Asn331Ser
NM_007313.2:c.1049A>G NP_009297.2:p.Asn350Ser
Ensemble ENST00000318560.6:c.992A>G ENST00000318560.6:p.Asn331Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Likely benign
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 benign 2023-10-06 criteria provided, single submitter not provided germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
chronic myeloid leukemia Bosutinib C Predictive Does Not Support Resistance Somatic 1 21865346 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In this retrospective study, imatinib-resistant or -intolerant patients, with chronic phase CML and ... CIViC Evidence Detail
NM_005157.6(ABL1):c.992A>G (p.Asn331Ser) 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
-
Genome
hg38
Position
chr9:130,872,944-130,872,944
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1555350127108852E-4
Chromosome Counts in All Race (ExAC)
121370
Allele Counts in All Race (ExAC)
8
Heterozygous Counts in All Race (ExAC)
8
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
6.591414682376204E-5
Variant (CIViC) (CIViC Variant)
BCR-ABL N331S
Transcript 1 (CIViC Variant)
ENST00000318560.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1529
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