Mutation details:

Protein level identifier (NP_006740):

p.Val507Glufs*2

cDNA level identifier (NM_006749):

c.1520_1521delTG

Gene level identifier:

g.102560_102561delTG

Archive identifier/Other designation:

p.V507Efs*2

Reference, alternative allele:

TCA, T

Genomic location hg(19)

8:42294508 (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:

1 heterozygous (1 in total).