Mutation details:

Protein level identifier (NP_002600):

p.Arg987Trp

cDNA level identifier (NM_002609):

c.2959C>T

Gene level identifier:

g.38065C>T

Archive identifier/Other designation:

p.R987W

Reference, alternative allele:

G, A

Genomic location hg(19)

5:149497359

Gene name:

PDGFRB

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

25292412; 26599395;

Number of all included cases:

1 heterozygous (1 in total).