Variant: rs122445101 

    present in Gene: ATRX
    present in Chromosome: X
    Position on Chromosome: 77558781
    Alleles of this Variant: C/T

rs122445101 in ATRX gene and Juberg-Marsidi syndrome PMID 15565397 2005 A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation.

PMID 16222662 2005 Asplenia in ATR-X syndrome: a second report.

PMID 10398237 1999 Carpenter-Waziri syndrome results from a mutation in XNP.

PMID 8630485 1996 XNP mutation in a large family with Juberg-Marsidi syndrome.

PMID 10751095 2000 Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome.

PMID 11050622 2000 Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome.