Mutation details:

Protein level identifier (NP_061183):

p.Phe167Ser

cDNA level identifier (NM_018713):

c.500T>C

Gene level identifier:

g.30707T>C

Reference, alternative allele:

A, G

Genomic location hg(19)

1:220101283 (not available on ExAC)

Gene name:

SLC30A10

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).

×