Mutation details:

Protein level identifier (NP_002600):

p.Arg226Cys

cDNA level identifier (NM_002609):

c.676C>T

Gene level identifier:

g.21897C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

5:149513527 (not available on ExAC)

Gene name:

PDGFRB

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).