Variant: rs1555465942 

    present in Gene: SRCAP
    present in Chromosome: 16
    Position on Chromosome: 30737415
    Alleles of this Variant: C/-

rs1555465942 in SRCAP gene and Dysmorphic features PMID 23621943 2013 The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.

PMID 23708140 2013 Exome sequencing to identify de novo mutations in sporadic ALS trios.

PMID 23763483 2014 Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34.

PMID 22965468 2013 Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.

PMID 26788936 2016 Stippled calcification in an infant with a recurrent SRCAP gene mutation.

PMID 24970356 2014 Whole exome sequencing to identify genetic causes of short stature.

PMID 25433523 2014 Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome.

PMID 22265015 2012 Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

rs1555465942 in SRCAP gene and Multiple congenital anomalies PMID 23708140 2013 Exome sequencing to identify de novo mutations in sporadic ALS trios.

PMID 22965468 2013 Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.

PMID 22265015 2012 Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

PMID 23621943 2013 The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.

PMID 26788936 2016 Stippled calcification in an infant with a recurrent SRCAP gene mutation.

PMID 25433523 2014 Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome.

PMID 23763483 2014 Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34.

PMID 24970356 2014 Whole exome sequencing to identify genetic causes of short stature.