Variant #0000651484 (NC_000004.11:g.55147769C>T, PDGFRA(NM_006206.4):c.2323+1120C>T)

Individual ID 00293627
Chromosome 4
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.55147769C>T
DNA change (hg38) g.54281602C>T
Published as -
ISCN -
DB-ID PDGFRA_000026 See all 2 reported entries
Variant remarks no interpretation available; 175 heterozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs2291591
Origin Germline
Segregation -
Frequency 175/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PDGFRA NM_006206.4 ?/. - c.2323+1120C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000294795 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq