Mutation details:

Protein level identifier (NP_002599):

p.Leu9Arg

cDNA level identifier (NM_002608):

c.26T>G

Gene level identifier:

g.814T>G

Reference, alternative allele:

A, C

Genomic location hg(19)

22:39639943 (not available on ExAC)

Gene name:

PDGFB

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

26599395;

Number of all included cases:

4 heterozygous (4 in total).

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