9q34.3 telomere region (includes EHMT1) |
Dosage Sensitivity Summary (Region)
Dosage ID:
ISCA-37399
Curation Status:
Won't Fix
Issue Type:
Dosage Curation -
Region
Description:
DELETION INFO:
ISCA P Value: ND EICHLER P Value: 8.50E-12
OMIM: #610253
SEG DUP mediated: No
REFS: Reference 1: Stewart, et al., Am J Med Genet. 128A:340-351, 2004; PMID: 15264279; Reference 2: Garg, et al., Nature. 437:270-274, 2005; PMID: 16025100; Reference 3: Kleefstra, et al., Am J Hum Genet. 79:370-377, 2006; PMID: 16826528 PMCID: PMC1559478; Reference 4: Kleefstra, et al., J Med Genet. 46:598-606, 2009; PMID: 19264732
Haploinsufficiency:
Won't Fix
Triplosensitivity:
Won't Fix
Related Links:
Last Evaluated:
Won't Fix
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
GRCh37/hg19 chr9:140513444-140730578 (NC_000009.11)