Mutation details:

Protein level identifier:

p.Leu658Pro

cDNA level identifier:

c.1973T>C

Genome level identifier:

g.31561T>C

Archive identifier/Other designation:

p.L658P

Reference, alternative allele:

A, G

Genetic location (hg19):

chr5:149503863 (not available on ExAC)

Gene name:

PDGFRB

Consequence:

missense

Pathogenicity scoring:

probably pathogenic

CADD score:

31

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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