chr4:54726020:>GCCTAT Detail (hg38) (KIT)

Information

Genome

Assembly Position
hg19 chr4:55,592,186-55,592,186 
hg38 chr4:54,726,020-54,726,020

HGVS

Type Transcript Protein
RefSeq NM_001093772.1:c.1512_1513insGCCTAT NP_001087241.1:p.Ala503_Tyr504dup
NM_000222.2:c.1509_1510insGCCTAT NP_000213.1:p.Ala502_Tyr503dup
Ensemble ENST00000687109.1:c.1512_1513insGCCTAT ENST00000687109.1:p.Ala503_Tyr504dup
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 164920 OMIM
HGNC 6342 HGNC
Ensembl ENSG00000157404 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM1326 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2023-02-15 criteria provided, single submitter not provided germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
cancer Imatinib D Predictive Does Not Support Resistance Somatic 2 14645423 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In an in vitro study of imatinib sensitivity, KIT Y503_F504insAY was cloned into a plasmid by site-d... CIViC Evidence Detail
NM_000222.3(KIT):c.1504_1509dup (p.Tyr503_Phe504insAlaTyr) 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
chr4:54,726,020-54,726,020
Variant Type
snv
Reference Allele
-
Alternative Allele
GCCTAT
Variant (CIViC) (CIViC Variant)
Y503_F504insAY
Transcript 1 (CIViC Variant)
ENST00000288135.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/946
Variant (CIViC) (CIViC Variant)
S501_A502INSAY
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1206
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