12q14 region (includes GRIP1 and HMGA2) |
Dosage Sensitivity Summary (Region)
Dosage ID:
ISCA-37414
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation -
Region
Description:
DELETION INFO:
ISCA P Value: ND EICHLER P Value: 0.4282
OMIM: N/A
SEG DUP mediated: No
REFS: Reference 1: Mari et al., Euro J Hum Genet 17:1141-1147, 2009; PMID: 19277063 PMCID: PMC2986596; Reference 2: Buysse et al., Euro J Med Genet 52:101-107, 2009; PMID: 19298872 ; Reference 3: Hellemans, et al., Nature Genetics. 36:1213-1218, 2004; PMID: 15489854
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000012.11)
()