rs34394958

This is a synonymous variant in the CP gene — it does not change the protein's amino acid sequence.

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ClinVar annotation

Likely Benign★★★☆

8 submitters5 publications

Deficiency of ferroxidase (ACEP); Hermansky-Pudlak syndrome (HPS); not specified

About CP

The protein encoded by this gene is a metalloprotein that binds most of the copper in plasma and is involved in the peroxidation of Fe(II)transferrin to Fe(III) transferrin. Mutations in this gene cause aceruloplasminemia, which results in iron accumulation and tissue damage, and is associated with diabetes and neurologic abnormalities. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Feb 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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