Mutation details:

Protein level identifier (NP_006740):

p.Leu7Phefs*10

cDNA level identifier (NM_006749):

c.21delG

Gene level identifier:

g.67182delG

Archive identifier/Other designation:

p.L7Ffs*10

Reference, alternative allele:

AC, A

Genomic location hg(19)

8:42329887 (not available on ExAC)

Gene name:

SLC20A2

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).