Mutation details:

Protein level identifier (NP_002599):

p.Glu54Aladel147

cDNA level identifier (NM_002608):

c.161-238_602-676del441

Gene level identifier:

g.10990_18229del

Archive identifier/Other designation:

deletion of exons 3-5

Reference, alternative allele:

G+7240bp, G

Genomic location hg(19)

22:39629768 (not available on ExAC)

Gene name:

PDGFB

Consequence:

structural variation

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).