rs778695747

This variant is located in the FOXH1 gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters

Holoprosencephaly sequence; Inborn genetic diseases

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About FOXH1

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]

View all FOXH1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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