chr4:55592186:>GCCTAT Detail (hg19) (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_000222.2:c.1509_1510insGCCTAT NP_000213.1:p.Ala502_Tyr503dup
NM_001093772.1:c.1512_1513insGCCTAT NP_001087241.1:p.Ala503_Tyr504dup
Ensemble ENST00000288135.6:c.1509_1510insGCCTAT ENST00000288135.6:p.Ala502_Tyr503dup
Summary

MGeND

Clinical significance not provided
Variant entry 5
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 COSM6923771 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided duodenum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided ileum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided duodenum not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided small intestine, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
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
hg19
Position
chr4:55,592,186-55,592,186
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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