chr4:54727420:CCATGTATGAAGTAC> Detail (hg38) (KIT)

Information

Genome

Assembly Position
hg19 chr4:55,593,586-55,593,600 
hg38 chr4:54,727,420-54,727,434

HGVS

Type Transcript Protein
RefSeq NM_000222.2:c.1652_1666delCCATGTATGAAGTAC NP_000213.1:p.Pro551_Val555del
NM_001093772.1:c.1643_1657delCCATGTATGAAGTAC NP_001087241.1:p.Pro548_Val552del
Ensemble ENST00000288135.6:c.1652_1666delCCATGTATGAAGTAC ENST00000288135.6:p.Pro551_Val555del
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1998-01-23 no assertion criteria provided gastrointestinal stromal tumor somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.760 Gastrointestinal Stromal Tumors NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000222.3(KIT):c.1652_1666del (p.Pro551_Val555del) AND Gastrointestinal stromal tumor ClinVar Detail
NA DisGeNET 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
-
dbSNP
rs587776804 dbSNP
Genome
hg38
Position
chr4:54,727,420-54,727,434
Variant Type
snv
Reference Allele
CCATGTATGAAGTAC
Alternative Allele
-
Genome browser