Mutation details:

Protein level identifier (NP_002134):

p.P10PfsTer80

cDNA level identifier (NM_002143):

c.30delC

Gene level identifier:

g.2935delC

Reference, alternative allele:

CC, C

Genomic location hg(19)

1:33354528 (not available on ExAC)

Gene name:

HPCA

Consequence:

frameshift

Pathogenicity scoring:

Possibly pathogenic

CADD score:

1

Phosphorylation activity:

Positive functional evidence:

not available;

Number of all included cases:

1 homozygous (1 in total).

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