Mutation details:

Protein level identifier (NP_006740):

p.Gln247*

cDNA level identifier (NM_006749):

c.739C>T

Gene level identifier:

g.99907C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

8:42297163 (not available on ExAC)

Gene name:

SLC20A2

Consequence:

nonsense

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).

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