Mutation details:

Protein level identifier:

p.Met1?

cDNA level identifier:

c.3G>A

Genome level identifier:

g.791G>A

Reference, alternative allele:

C, T

Genetic location (hg19):

chr22:39639966 (not available on ExAC)

Gene name:

PDGFB

Consequence:

unknown effect

Pathogenicity scoring:

probably pathogenic

CADD score:

23

Positive functional evidence:

26599395

Diseases reported for this mutation:

PFBC-PDGFB

Number of all included cases:

3 heterozygous (3 in total).

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