Protein level identifier (NP_000152):

p.Arg241Gln

cDNA level identifier (NM_000161):

c.722G>A

Gene level identifier:

g.58805G>A

Reference, alternative allele:

C, T

Genomic location hg(0)

14:55310766 (not available on ExAC)

Gene name:

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

Positive functional evidence:

not available

Number of all included cases:

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