22q13 region (includes SHANK3) |
Dosage Sensitivity Summary (Region)
Dosage ID:
ISCA-37403
Curation Status:
Won't Fix
Issue Type:
Dosage Curation -
Region
Description:
emphasized textDELETION INFO:
ISCA P Value: ND EICHLER P Value: 0
OMIM: #606232
SEG DUP mediated: No
REFS: Reference 1: Phelan, et al., Am J Med Genet. 101:91-99, 2001; PMID: 11391650
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 chr22:51045516-51178945 (NC_000022.10)