Variant #0000522659 (NC_000004.11:g.55139704A>G, PDGFRA(NM_006206.4):c.1365A>G)

Chromosome 4
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.55139704A>G
DNA change (hg38) g.54273537A>G
Published as PDGFRA(NM_006206.4):c.1365A>G (p.K455=)
ISCN -
DB-ID PDGFRA_000017
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PDGFRA NM_006206.4 -?/. - c.1365A>G r.(?) p.(Lys455=)