Variant #0000305385 (NC_000004.11:g.55131094G>C, PDGFRA(NM_006206.4):c.637G>C)

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.55131094G>C
DNA change (hg38) g.54264927G>C
Published as PDGFRA(NM_006206.4):c.637G>C (p.E213Q)
ISCN -
DB-ID PDGFRA_000008
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PDGFRA NM_006206.4 -?/. - c.637G>C r.(?) p.(Glu213Gln)