Protein level identifier (NP_115785):

p.Arg246*

cDNA level identifier (NM_032409):

c.736C>T

Gene level identifier:

g.6498C>T

Reference, alternative allele:

C, T

Genomic location hg(0)

1:20966445 (not available on ExAC)

Gene name:

Consequence:

nonsense

Pathogenicity scoring:

Not available

CADD score:

Positive functional evidence:

not available

Number of all included cases:

10 homozygous, 2 compound heterozygous (12 in total).