rs1071592

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

ClinVar annotation

Benign☆☆☆
2 submitters1 publication

Alopecia-intellectual disability syndrome 1

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About AHSG

The protein encoded by this gene is a negatively-charged serum glycoprotein that is synthesized by hepatocytes. The encoded protein consists of two polypeptide chains, which are both cleaved from a proprotein encoded from a single mRNA. It is involved in several processes, including endocytosis, brain development, and the formation of bone tissue. Defects in this gene are a cause of susceptibility to leanness. [provided by RefSeq, Aug 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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