Mutation details:

Protein level identifier:

p.*242Tyrex

cDNA level identifier:

c.726G>C

Genome level identifier:

g.19029G>C

Reference, alternative allele:

C, G

Genetic location (hg19):

chr22:39621728 (not available on ExAC)

Gene name:

PDGFB

Consequence:

in frame indel

Pathogenicity scoring:

possibly pathogenic

CADD score:

11

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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