Mutation details:

Protein level identifier (NP_002599):

p.Arg149*

cDNA level identifier (NM_002608):

c.445C>T

Gene level identifier:

g.13119C>T

Archive identifier/Other designation:

p.R149*

Reference, alternative allele:

G, A

Genomic location hg(19)

22:39627638 (not available on ExAC)

Gene name:

PDGFB

Consequence:

nonsense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

26599395;

Number of all included cases:

2 heterozygous (2 in total).

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