Mutation details:

Protein level identifier (NP_002600):

p.Arg695Cys

cDNA level identifier (NM_002609):

c.2083C>T

Gene level identifier:

g.32719C>T

Archive identifier/Other designation:

p.R695C

Reference, alternative allele:

G, A

Genomic location hg(19)

5:149502705

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).