Mutation details:

Protein level identifier:

p.Arg149*

cDNA level identifier:

c.445C>T

Genome level identifier:

g.13119C>T

Reference, alternative allele:

G, A

Genetic location (hg19):

chr22:39627638 (not available on ExAC)

Gene name:

PDGFB

Consequence:

missense

Pathogenicity scoring:

definitely pathogenic

CADD score:

39

Positive functional evidence:

26599395

Diseases reported for this mutation:

PFBC-PDGFB

Number of all included cases:

1 heterozygous (1 in total).

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