Variant #0001972066 (NC_000004.11:g.55124870C>T, NC_000004.11(NM_006206.4):c.-12-54C>T (PDGFRA))

Individual ID 00000063
Chromosome 4
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.55124870C>T
Reference -
DB-ID PDGFRA_000033
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license No license selected
Created by LOVD
Date created 2016-08-25 05:55:33 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen prediction     

GVS function     

Splice distance     
PDGFRA NM_006206.4 ./. - c.-12-54C>T -12 r.(=) p.(=) - intron 54



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000075 DNA SEQ-NG - - 51213 LOVD