Mutation details:

Protein level identifier (NP_002134):

p.Asn75Lys

cDNA level identifier (NM_002143):

c.225C>A

Gene level identifier:

g.3130C>A

Reference, alternative allele:

C, A

Genomic location hg(19)

1:33354724 (not available on ExAC)

Gene name:

HPCA

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

28

Phosphorylation activity:

Positive functional evidence:

not available;

Number of all included cases:

3 homozygous (3 in total).

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