chr4:55593606:AAGGTT> Detail (hg19) (KIT)

Information

Genome

Assembly Position
hg19 chr4:55,593,606-55,593,611
hg38 chr4:54,727,440-54,727,445 

HGVS

Type Transcript Protein
RefSeq NM_000222.2:c.1672_1677delAAGGTT NP_000213.1:p.Lys558_Val559del
NM_001093772.1:c.1663_1668delAAGGTT NP_001087241.1:p.Lys555_Val556del
Ensemble ENST00000288135.6:c.1672_1677delAAGGTT ENST00000288135.6:p.Lys558_Val559del
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 164920 OMIM
HGNC 6342 HGNC
Ensembl ENSG00000157404 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM1235 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
gastrointestinal stromal tumor Sunitinib C Predictive Supports Resistance Somatic 2 18955458 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
Patient 47 from a larger cohort of genotyped patients (n= 78) with imatinib resistant or intolerant ... 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
chr4:55,593,606-55,593,611
Variant Type
snv
Reference Allele
AAGGTT
Alternative Allele
-
Variant (CIViC) (CIViC Variant)
K558_V559del
Transcript 1 (CIViC Variant)
ENST00000288135.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/964
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