Protein level identifier (NP_115785):

p.Val59Serfs*48

cDNA level identifier (NM_032409):

c.173delG

Gene level identifier:

g.267delG

Reference, alternative allele:

AG, A

Genomic location hg(0)

1:20960213 (not available on ExAC)

Gene name:

Consequence:

unknown effect

Pathogenicity scoring:

Not available

CADD score:

Positive functional evidence:

not available

Number of all included cases:

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