chr4:54274883:AGCCCAGATGGACATGAA>CGC Detail (hg38) (PDGFRA)

Information

Genome

Assembly Position
hg19 chr4:55,141,050-55,141,067 View the variant detail on this assembly version.
hg38 chr4:54,274,883-54,274,900

HGVS

Type Transcript Protein
RefSeq NM_006206.4:c.1696_1713delinsCGC NP_006197.1:p.Ser566_Glu571delinsArg
Ensemble ENST00000257290.10:c.1696_1713delinsCGC ENST00000257290.10:p.Ser566_Glu571delinsArg
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 173490 OMIM
HGNC 8803 HGNC
Ensembl ENSG00000134853 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM742 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.616 Gastrointestinal Stromal Tumors NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
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
rs121913271 dbSNP
Genome
hg38
Position
chr4:54,274,883-54,274,900
Variant Type
snv
Reference Allele
AGCCCAGATGGACATGAA
Alternative Allele
CGC
Genome browser