chr4:54274866:GGGTCATTGAATCAA> Detail (hg38) (PDGFRA)

Information

Genome

Assembly Position
hg19 chr4:55,141,033-55,141,047 
hg38 chr4:54,274,866-54,274,880

HGVS

Type Transcript Protein
RefSeq NM_006206.4:c.1679_1693delGGGTCATTGAATCAA NP_006197.1:p.Arg560_Ser564del
Ensemble ENST00000257290.10:c.1679_1693delGGGTCATTGAATCAA ENST00000257290.10:p.Arg560_Ser564del
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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
COSMIC COSM741 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2003-01-31 no assertion criteria provided gastrointestinal stromal tumor somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.616 Gastrointestinal Stromal Tumors NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006206.6(PDGFRA):c.1679_1693del (p.Arg560_Ser564del) AND Gastrointestinal stromal tumor ClinVar Detail
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
rs587776795 dbSNP
Genome
hg38
Position
chr4:54,274,866-54,274,880
Variant Type
snv
Reference Allele
GGGTCATTGAATCAA
Alternative Allele
-
Genome browser