chr4:54278380:C>T Detail (hg38) (PDGFRA)

Information

Genome

Assembly Position
hg19 chr4:55,144,547-55,144,547 View the variant detail on this assembly version.
hg38 chr4:54,278,380-54,278,380

HGVS

Type Transcript Protein
RefSeq NM_006206.4:c.2021C>T NP_006197.1:p.Thr674Ile
Ensemble ENST00000257290.10:c.2021C>T ENST00000257290.10:p.Thr674Ile
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
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 COSM743 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2003-03-27 no assertion criteria provided Hypereosinophilic syndrome, idiopathic, resistant to imatinib germline Detail
Uncertain significance 2023-09-01 criteria provided, single submitter gastrointestinal stromal tumor germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.135 chronic eosinophilic leukemia In conclusion, S116836 is active against WT and T674I FIP1L1-PDGFRα-expressing c... BeFree 25431951 Detail
0.010 Idiopathic hypereosinophilic syndrome The gate-keeper mutations T674I platelet-derived growth factor receptor α (PDGFR... BeFree 22447844 Detail
0.135 chronic eosinophilic leukemia FIP1L1-PDGFRA-positive patients with CEL respond to low-dose imatinib therapy, b... BeFree 16645167 Detail
0.001 chronic eosinophilic leukemia Resistance to imatinib in HES/CEL has been described mainly due to the T674I mut... BeFree 25431951 Detail
0.008 disseminated eosinophilic collagen disease The gate-keeper mutations T674I platelet-derived growth factor receptor α (PDGFR... BeFree 22447844 Detail
0.010 Idiopathic hypereosinophilic syndrome In conclusion, S116836 is active against WT and T674I FIP1L1-PDGFRα-expressing c... BeFree 25431951 Detail
0.135 chronic eosinophilic leukemia The gate-keeper mutations T674I platelet-derived growth factor receptor α (PDGFR... BeFree 22447844 Detail
<0.001 hypereosinophilic syndrome Resistance to imatinib in HES/CEL has been described mainly due to the T674I mut... BeFree 25431951 Detail
0.008 disseminated eosinophilic collagen disease In conclusion, S116836 is active against WT and T674I FIP1L1-PDGFRα-expressing c... BeFree 25431951 Detail
0.003 Myeloid Leukemia, Chronic The gate-keeper mutations T674I platelet-derived growth factor receptor α (PDGFR... BeFree 22447844 Detail
0.134 chronic eosinophilic leukemia FIP1L1-PDGFRA-positive patients with CEL respond to low-dose imatinib therapy, b... BeFree 16645167 Detail
0.145 hypereosinophilic syndrome The gate-keeper mutations T674I platelet-derived growth factor receptor α (PDGFR... BeFree 22447844 Detail
0.145 hypereosinophilic syndrome In conclusion, S116836 is active against WT and T674I FIP1L1-PDGFRα-expressing c... BeFree 25431951 Detail
<0.001 disseminated eosinophilic collagen disease Resistance to imatinib in HES/CEL has been described mainly due to the T674I mut... BeFree 25431951 Detail
<0.001 Idiopathic hypereosinophilic syndrome Resistance to imatinib in HES/CEL has been described mainly due to the T674I mut... BeFree 25431951 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006206.6(PDGFRA):c.2021C>T (p.Thr674Ile) AND Hypereosinophilic syndrome, idiopathic, resistant to... ClinVar Detail
NM_006206.6(PDGFRA):c.2021C>T (p.Thr674Ile) AND Gastrointestinal stromal tumor ClinVar Detail
In conclusion, S116836 is active against WT and T674I FIP1L1-PDGFRα-expressing cells, and may be a p... DisGeNET Detail
The gate-keeper mutations T674I platelet-derived growth factor receptor α (PDGFRα) in hypereosinophi... DisGeNET Detail
FIP1L1-PDGFRA-positive patients with CEL respond to low-dose imatinib therapy, but resistance due to... DisGeNET Detail
Resistance to imatinib in HES/CEL has been described mainly due to the T674I mutation in FIP1L1-PDGF... DisGeNET Detail
The gate-keeper mutations T674I platelet-derived growth factor receptor α (PDGFRα) in hypereosinophi... DisGeNET Detail
In conclusion, S116836 is active against WT and T674I FIP1L1-PDGFRα-expressing cells, and may be a p... DisGeNET Detail
The gate-keeper mutations T674I platelet-derived growth factor receptor α (PDGFRα) in hypereosinophi... DisGeNET Detail
Resistance to imatinib in HES/CEL has been described mainly due to the T674I mutation in FIP1L1-PDGF... DisGeNET Detail
In conclusion, S116836 is active against WT and T674I FIP1L1-PDGFRα-expressing cells, and may be a p... DisGeNET Detail
The gate-keeper mutations T674I platelet-derived growth factor receptor α (PDGFRα) in hypereosinophi... DisGeNET Detail
FIP1L1-PDGFRA-positive patients with CEL respond to low-dose imatinib therapy, but resistance due to... DisGeNET Detail
The gate-keeper mutations T674I platelet-derived growth factor receptor α (PDGFRα) in hypereosinophi... DisGeNET Detail
In conclusion, S116836 is active against WT and T674I FIP1L1-PDGFRα-expressing cells, and may be a p... DisGeNET Detail
Resistance to imatinib in HES/CEL has been described mainly due to the T674I mutation in FIP1L1-PDGF... DisGeNET Detail
Resistance to imatinib in HES/CEL has been described mainly due to the T674I mutation in FIP1L1-PDGF... 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
rs121908587 dbSNP
Genome
hg38
Position
chr4:54,278,380-54,278,380
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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