chr4:54733172:A>C Detail (hg38) (KIT)

Information

Genome

Assembly Position
hg19 chr4:55,599,338-55,599,338 View the variant detail on this assembly version.
hg38 chr4:54,733,172-54,733,172

HGVS

Type Transcript Protein
RefSeq NM_000222.2:c.2464A>C NP_000213.1:p.Asn822His
NM_001093772.1:c.2452A>C NP_001087241.1:p.Asn818His
Ensemble ENST00000288135.6:c.2464A>C ENST00000288135.6:p.Asn822His
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 COSM1318 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
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 N822H was cloned into a plasmid by site-directed m... 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
hg38
Position
chr4:54,733,172-54,733,172
Variant Type
snv
Reference Allele
A
Alternative Allele
C
Variant (CIViC) (CIViC Variant)
N822H
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/987
Genome browser