rs748614228

This variant is located in the GLT6D1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About GLT6D1

The GT6 glycosyltransferases gene family, which includes the ABO blood group (ABO; MIM 110300) and GLT6D1, shows a complex evolution pattern, with multiple events of gain and loss in different mammal species. In humans, the ABO gene is considered the sole functional member, although the O allele is null and is fixed in certain populations (summary by Casals et al. (2009) [PubMed 19218399]).[supplied by OMIM, Jan 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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