chr4:55152094:CATCATGCATGA> Detail (hg19) (PDGFRA)

Information

Genome

Assembly Position
hg19 chr4:55,152,094-55,152,105
hg38 chr4:54,285,927-54,285,938 

HGVS

Type Transcript Protein
RefSeq NM_006206.4:c.2526_2537delCATCATGCATGA NP_006197.1:p.Ile843_Asp846del
Ensemble ENST00000257290.10:c.2526_2537delCATCATGCATGA ENST00000257290.10:p.Ile843_Asp846del
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 COSM96892 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2015-07-14 no assertion criteria provided gastrointestinal stromal tumor somatic Detail
Uncertain significance no assertion criteria provided not provided unknown 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.2526_2537del (p.Ile843_Asp846del) AND Gastrointestinal stromal tumor ClinVar Detail
NM_006206.6(PDGFRA):c.2526_2537del (p.Ile843_Asp846del) AND not provided 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
rs1553906053 dbSNP
Genome
hg19
Position
chr4:55,152,094-55,152,105
Variant Type
snv
Reference Allele
CATCATGCATGA
Alternative Allele
-
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