chr4:54285923:G>A Detail (hg38) (PDGFRA)

Information

Genome

Assembly Position
hg19 chr4:55,152,090-55,152,090 View the variant detail on this assembly version.
hg38 chr4:54,285,923-54,285,923

HGVS

Type Transcript Protein
RefSeq NM_006206.4:c.2522G>A NP_006197.1:p.Arg841Lys
Ensemble ENST00000257290.10:c.2522G>A ENST00000257290.10:p.Arg841Lys
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 173490 OMIM
HGNC 8803 HGNC
Ensembl ENSG00000134853 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv17029162 TogoVar
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 melanoma somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
melanoma Crenolanib,Imatinib D Predictive Supports Sensitivity/Response 3 24132921 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
Five PDGFRA Mutations (P577S, V658A, R841K, H845Y, and G853D) resulted in strong autophosphorylation... CIViC Evidence Detail
NM_006206.6(PDGFRA):c.2522G>A (p.Arg841Lys) AND Melanoma 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
rs1057519813 dbSNP
Genome
hg38
Position
chr4:54,285,923-54,285,923
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Variant (CIViC) (CIViC Variant)
R841K
Transcript 1 (CIViC Variant)
ENST00000257290.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/863
Genome browser