Protein level identifier (NP_115785):

p.Trp90*

cDNA level identifier (NM_032409):

c.270G>A

Gene level identifier:

g.364G>A

Archive identifier/Other designation:

p.W90Xfs

Reference, alternative allele:

G, A

Genomic location hg(19)

1:20960311 (not available on ExAC)

Gene name:

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous, 1 compound heterozygous (2 in total).