HOXA13 Chromosome 7
Homeobox A13
Upload your DNA to see your personal genotypes for variants in HOXA13.
What This Gene Does
In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Expansion of a polyalanine tract in the encoded protein can cause hand-foot-uterus syndrome, also known as hand-foot-genital syndrome. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
HOXL subclass homeoboxes
Locus Type
gene with protein product
Location
7p15.2
Ensembl
ENSG00000106031
Associated Conditions (4)
Hand-foot-genital syndrome
Guttmacher syndrome
HOXA13-related disorder
Inborn genetic diseases
Key Variants
RS1319557765
Conflicting classifications of pathogenicity
Hand-foot-genital syndrome, Guttmacher syndrome, Hand-foot-genital syndrome
Health Risk
RS200676634
Conflicting classifications of pathogenicity
Guttmacher syndrome, Hand-foot-genital syndrome, HOXA13-related disorder
Health Risk
RS528394833
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS747262113
Conflicting classifications of pathogenicity
HOXA13-related disorder, Guttmacher syndrome, Hand-foot-genital syndrome
Health Risk
RS983576284
Conflicting classifications of pathogenicity
Hand-foot-genital syndrome, Guttmacher syndrome, Hand-foot-genital syndrome
Health Risk
RS2534826601
Likely pathogenic
Hand-foot-genital syndrome, Hand-foot-genital syndrome
Health Risk
RS104894019
Pathogenic
Hand-foot-genital syndrome, Hand-foot-genital syndrome
Health Risk
RS1158254994
Pathogenic
Hand-foot-genital syndrome, Hand-foot-genital syndrome
Health Risk
RS121912542
Pathogenic
Hand-foot-genital syndrome, Hand-foot-genital syndrome
Health Risk
RS2534827749
Pathogenic
Hand-foot-genital syndrome, Hand-foot-genital syndrome
Health Risk
RS2534827764
Pathogenic
Hand-foot-genital syndrome, Hand-foot-genital syndrome
Health Risk
RS387906542
Pathogenic
Hand-foot-genital syndrome, Hand-foot-genital syndrome
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1319557765 | Health Risk | Conflicting classifications of pathogenicity | Hand-foot-genital syndrome, Guttmacher syndrome, Hand-foot-genital syndrome |
| RS200676634 | Health Risk | Conflicting classifications of pathogenicity | Guttmacher syndrome, Hand-foot-genital syndrome, HOXA13-related disorder |
| RS528394833 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS747262113 | Health Risk | Conflicting classifications of pathogenicity | HOXA13-related disorder, Guttmacher syndrome, Hand-foot-genital syndrome |
| RS983576284 | Health Risk | Conflicting classifications of pathogenicity | Hand-foot-genital syndrome, Guttmacher syndrome, Hand-foot-genital syndrome |
| RS2534826601 | Health Risk | Likely pathogenic | Hand-foot-genital syndrome, Hand-foot-genital syndrome |
| RS104894019 | Health Risk | Pathogenic | Hand-foot-genital syndrome, Hand-foot-genital syndrome |
| RS1158254994 | Health Risk | Pathogenic | Hand-foot-genital syndrome, Hand-foot-genital syndrome |
| RS121912542 | Health Risk | Pathogenic | Hand-foot-genital syndrome, Hand-foot-genital syndrome |
| RS2534827749 | Health Risk | Pathogenic | Hand-foot-genital syndrome, Hand-foot-genital syndrome |
| RS2534827764 | Health Risk | Pathogenic | Hand-foot-genital syndrome, Hand-foot-genital syndrome |
| RS387906542 | Health Risk | Pathogenic | Hand-foot-genital syndrome, Hand-foot-genital syndrome |
| RS35861510 | Health Risk | Pathogenic/Likely pathogenic | Hand-foot-genital syndrome, Hand-foot-genital syndrome |