chr4:55599341:T>G Detail (hg19) (KIT)

Information

Genome

Assembly Position
hg19 chr4:55,599,341-55,599,341
hg38 chr4:54,733,175-54,733,175 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000222.2:c.2467T>G NP_000213.1:p.Tyr823Asp
NM_001093772.1:c.2455T>G NP_001087241.1:p.Tyr819Asp
Ensemble ENST00000288135.6:c.2467T>G ENST00000288135.6:p.Tyr823Asp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely 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 COSM18681 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2014-12-26 no assertion criteria provided gastrointestinal stromal tumor somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
gastrointestinal stromal tumor Imatinib C Predictive Supports Resistance Somatic 3 16954519 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
147 patients with advanced, unresectable GISTs were enrolled onto a randomized, phase II clinical st... CIViC Evidence Detail
NM_000222.3(KIT):c.2467T>G (p.Tyr823Asp) AND Gastrointestinal stromal tumor 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
-
dbSNP
rs1057519761 dbSNP
Genome
hg19
Position
chr4:55,599,341-55,599,341
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Variant (CIViC) (CIViC Variant)
Y823D
Transcript 1 (CIViC Variant)
ENST00000288135.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/989
Genome browser