Mutation details:

Protein level identifier:

p.Glu54Ala

cDNA level identifier:

c.161-238_602-676del441

Genome level identifier:

g.10990_18229del

Genetic location (hg19):

chr22:39622527 (not available on ExAC)

Gene name:

PDGFB

Consequence:

in frame indel

Pathogenicity scoring:

probably pathogenic

CADD score:

50

Positive functional evidence:

not available

Diseases reported for this mutation:

PFBC-PDGFB

Number of all included cases:

1 heterozygous (1 in total).

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