Table 2.

HOXA13 Allelic Variants Discussed in This GeneReview

Class of Variant AlleleDNA Nucleotide Change 1Protein Amino Acid Change
(Alias 2)
Reference Sequences
Normalc.112GCN[14]p.Ala38[14]NM_000522​.4
NP_000513​.2
c.217GCN[12]p.Ala73[12]
c.346GCN[12]p.Ala116[12]
c.346GCN[18]p.Ala116[18]
Pathologicc.112GCN[22]
(termed +8 alleles)
p.Ala38[22]
c.217GCN[18]
(termed +6 alleles)
p.Ala73[18]
c.346GCN(18_32)
(alleles of +6 to +14)
p.Ala116(18_32)
c.407C>Ap.Ser136X
c.586C>Tp.Gln196X
c.1093C>Tp.Gln365X
c.1107G>Ap.Trp369X
c.1114A>Cp.Asn372His
(N51H)

Note on variant classification: Variants listed in the table have been provided by the author(s). GeneReviews staff have not independently verified the classification of variants.

Note on nomenclature: GeneReviews follows the standard naming conventions of the Human Genome Variation Society (www​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1. The trinucleotide repeat GCN, where N is either A, C, G, or T (which all code for alanine), is designated with the exact number of repeats in brackets (e.g., c.112GCH[14] designates an allele with exactly 14 GCN repeats). However, a designation of c.346GCN(18_32), for example, means that the GCN sequence can be found repeated 18 to 32 times in the population.

2. Variant designation that does not conform to current naming conventions

From: Hand-Foot-Genital Syndrome

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