Variant: rs397515481 

    present in Gene: FGFR1
    present in Chromosome: 8
    Position on Chromosome: 38428048
    Alleles of this Variant: A/G

rs397515481 in FGFR1 gene and Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate PMID 24888332 2014 Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism.

PMID 23812909 2013 FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.