Mutation details:

Protein level identifier:

p.Arg987Trp

cDNA level identifier:

c.2959C>T

Genome level identifier:

g.38065C>T

Archive identifier/Other designation:

p.R987W

Reference, alternative allele:

G, A

Genetic location (hg19):

chr5:149497359

Gene name:

PDGFRB

Consequence:

missense

Pathogenicity scoring:

probably pathogenic

CADD score:

34

Positive functional evidence:

25292412; 26599395

Diseases reported for this mutation:

PFBC-PDGFRB

Number of all included cases:

1 heterozygous (1 in total).

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