Mutation details:

Protein level identifier (NP_002599):

p.Gln145*

cDNA level identifier (NM_002608):

c.433C>T

Gene level identifier:

g.13107C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

22:39627650 (not available on ExAC)

Gene name:

PDGFB

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

26599395;

Number of all included cases:

5 heterozygous (5 in total).

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