Mutation details:

Protein level identifier (NP_002599):

p.Leu119Pro

cDNA level identifier (NM_002608):

c.356T>C

Gene level identifier:

g.13030T>C

Reference, alternative allele:

A, G

Genomic location hg(19)

22:39627727 (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:

2 heterozygous (2 in total).

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