FOXH1 Chromosome 8
Forkhead box H1
Upload your DNA to see your personal genotypes for variants in FOXH1.
What This Gene Does
FOXH1 encodes a human homolog of Xenopus forkhead activin signal transducer-1. FOXH1 protein binds SMAD2 and activates an activin response element via binding the DNA motif TGT(G/T)(T/G)ATT. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Forkhead boxes
Locus Type
gene with protein product
Location
8q24.3
Ensembl
ENSG00000160973
Associated Conditions (3)
Conotruncal defect
Holoprosencephaly sequence
Inborn genetic diseases
Key Variants
RS143221196
Conflicting classifications of pathogenicity
Conotruncal defect, Conotruncal defect
Health Risk
RS180724802
Conflicting classifications of pathogenicity
Holoprosencephaly sequence, Holoprosencephaly sequence
Health Risk
RS200115495
Conflicting classifications of pathogenicity
Holoprosencephaly sequence, Inborn genetic diseases, Holoprosencephaly sequence
Health Risk
RS201691370
Conflicting classifications of pathogenicity
Holoprosencephaly sequence, Inborn genetic diseases, Holoprosencephaly sequence
Health Risk
RS373427903
Conflicting classifications of pathogenicity
Inborn genetic diseases, Holoprosencephaly sequence, Inborn genetic diseases
Health Risk
RS374587860
Conflicting classifications of pathogenicity
Holoprosencephaly sequence, Holoprosencephaly sequence
Health Risk
RS755573914
Conflicting classifications of pathogenicity
Holoprosencephaly sequence, Inborn genetic diseases, Holoprosencephaly sequence
Health Risk
RS759694605
Conflicting classifications of pathogenicity
Holoprosencephaly sequence, Inborn genetic diseases, Holoprosencephaly sequence
Health Risk
RS761837057
Conflicting classifications of pathogenicity
Holoprosencephaly sequence, Holoprosencephaly sequence
Health Risk
RS1312980498
Likely pathogenic
Conotruncal defect, Conotruncal defect
Health Risk
RS1341550325
Likely pathogenic
Conotruncal defect, Conotruncal defect
Health Risk
RS1379104498
Likely pathogenic
Conotruncal defect, Conotruncal defect
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143221196 | Health Risk | Conflicting classifications of pathogenicity | Conotruncal defect, Conotruncal defect |
| RS180724802 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly sequence, Holoprosencephaly sequence |
| RS200115495 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly sequence, Inborn genetic diseases, Holoprosencephaly sequence |
| RS201691370 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly sequence, Inborn genetic diseases, Holoprosencephaly sequence |
| RS373427903 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Holoprosencephaly sequence, Inborn genetic diseases |
| RS374587860 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly sequence, Holoprosencephaly sequence |
| RS755573914 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly sequence, Inborn genetic diseases, Holoprosencephaly sequence |
| RS759694605 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly sequence, Inborn genetic diseases, Holoprosencephaly sequence |
| RS761837057 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly sequence, Holoprosencephaly sequence |
| RS1312980498 | Health Risk | Likely pathogenic | Conotruncal defect, Conotruncal defect |
| RS1341550325 | Health Risk | Likely pathogenic | Conotruncal defect, Conotruncal defect |
| RS1379104498 | Health Risk | Likely pathogenic | Conotruncal defect, Conotruncal defect |
| RS1564752095 | Health Risk | Likely pathogenic | Conotruncal defect, Conotruncal defect |
| RS1825112395 | Health Risk | Likely pathogenic | Conotruncal defect, Conotruncal defect |
| RS1825112515 | Health Risk | Likely pathogenic | Conotruncal defect, Conotruncal defect |