Protein level identifier (NP_115785):

p.Arg492*

cDNA level identifier (NM_032409):

c.1474C>T

Gene level identifier:

g.15763C>T

Reference, alternative allele:

C, T

Genomic location hg(0)

1:20975710 (not available on ExAC)

Gene name:

Consequence:

nonsense

Pathogenicity scoring:

Not available

CADD score:

Positive functional evidence:

Number of all included cases:

4 homozygous, 7 compound heterozygous (11 in total).