Variant #0000296860 (NC_000004.11:g.55131118C>T, PDGFRA(NM_006206.4):c.661C>T)

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.55131118C>T
DNA change (hg38) g.54264951C>T
Published as PDGFRA(NM_001347830.1):c.700C>T (p.L234F), PDGFRA(NM_006206.4):c.661C>T (p.L221F)
ISCN -
DB-ID PDGFRA_000009 See all 3 reported entries
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) 0.00343 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PDGFRA NM_006206.4 -?/. - c.661C>T r.(?) p.(Leu221Phe)