Mutation details:

Protein level identifier (NP_002599):

p.Arg142His

cDNA level identifier (NM_002608):

c.425G>A

Gene level identifier:

g.13099G>A

Reference, alternative allele:

C, T

Genomic location hg(19)

22:39627658

Gene name:

PDGFB

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).