Mutation details:

Protein level identifier:

p.Leu119Pro

cDNA level identifier:

c.356T>C

Genome level identifier:

g.13030T>C

Reference, alternative allele:

A, G

Genetic location (hg19):

chr22:39627727 (not available on ExAC)

Gene name:

PDGFB

Consequence:

missense

Pathogenicity scoring:

probably pathogenic

CADD score:

30

Positive functional evidence:

26599395

Diseases reported for this mutation:

PFBC-PDGFB

Number of all included cases:

2 heterozygous (2 in total).

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