Mutation details:

Protein level identifier (NP_002599):

p.Arg78Cys

cDNA level identifier (NM_002608):

c.232C>T

Gene level identifier:

g.11299C>T

Archive identifier/Other designation:

p.R78C

Reference, alternative allele:

G, A

Genomic location hg(19)

22:39629458 (not available on ExAC)

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:

3 heterozygous (3 in total).