chr4:54733167:A>C Detail (hg38) (KIT)

Information

Genome

Assembly Position
hg19 chr4:55,599,333-55,599,333 View the variant detail on this assembly version.
hg38 chr4:54,733,167-54,733,167

HGVS

Type Transcript Protein
RefSeq NM_000222.2:c.2459A>C NP_000213.1:p.Asp820Ala
NM_001093772.1:c.2447A>C NP_001087241.1:p.Asp816Ala
Ensemble ENST00000288135.6:c.2459A>C ENST00000288135.6:p.Asp820Ala
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 COSM133670 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2019-07-02 criteria provided, single submitter gastrointestinal stromal tumor germline 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.2459A>C (p.Asp820Ala) 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
rs121913682 dbSNP
Genome
hg38
Position
chr4:54,733,167-54,733,167
Variant Type
snv
Reference Allele
A
Alternative Allele
C
Variant (CIViC) (CIViC Variant)
D820A
Transcript 1 (CIViC Variant)
ENST00000288135.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1265
Genome browser