1 copy: 6p telomere | 3 copies: 6p telomere |
- 40
Haplo
Score - 40
Triplo
Score
Dosage Sensitivity Summary (Region)
Dosage ID:
ISCA-37471
Curation Status:
Complete
Issue Type:
Dosage Curation -
Region
Description:
review of nstd45 regions
Haploinsufficiency:
Dosage Sensitivity Unlikely
(40)
Triplosensitivity:
Dosage Sensitivity Unlikely
(40)
Last Evaluated:
06/20/2014
Haploinsufficiency (HI) Score Details
HI Score:
40
HI Evidence Strength:
Dosage Sensitivity Unlikely
(Disclaimer)
HI Evidence Comments:
This genomic region contains one coding gene, DUSP22. Reports of 6p subtelomere deletions associated with a clinical phenotype are usually much larger regions. Variants in the region chr6:230,527-378,628 are common in the public CNV databases of (presumably) 'normal' controls.
Triplosensitivity (TS) Score Details
TS Score:
40
TS Evidence Strength:
Dosage Sensitivity Unlikely (Disclaimer)
TS Evidence Comments:
This genomic region contains one coding gene, DUSP22. Variants in the region chr6:230,527-378,628 are common in the public CNV databases of (presumably) 'normal' controls.
Genomic View
Select assembly:
(NC_000006.11)
()