Variant: rs113994198 

    present in Gene: PAFAH1B1
    present in Chromosome: 17
    Position on Chromosome: 2666053
    Alleles of this Variant: A/-;AA

rs113994198 in PAFAH1B1 gene and Classical Lissencephaly PMID 11502906 2001 LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.

PMID 14581661 2003 Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.

PMID 10441340 1999 Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.

rs113994198 in PAFAH1B1 gene and Ectopic Tissue PMID 11502906 2001 LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.

PMID 10441340 1999 Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.

PMID 14581661 2003 Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.

rs113994198 in PAFAH1B1 gene and Global developmental delay PMID 14581661 2003 Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.

PMID 11502906 2001 LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.

PMID 10441340 1999 Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.

rs113994198 in PAFAH1B1 gene and Seizures PMID 14581661 2003 Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.

PMID 11502906 2001 LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.

PMID 10441340 1999 Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.