Variants
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rs200074767

  • Uncertain significance

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Description

The T462M variant in the ABCB6 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is observed in 1/11568 (0.009%) alleles from individuals of Latino background in the ExAC dataset (Lek et al., 2016). The T462M variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret T462M as a variant of uncertain significance.

Reference Allele

G


Alternative Allele

A

Chromosome

2


Location

219214390


Variant Type

SNP

Genes

Phenotypes

ClinVar

Name

NM_005689.4(ABCB6):c.1385C>T (p.Thr462Met)


Allele

A


Clinical Significance

Uncertain significance

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