DIRAS3 |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- DIRAS3 (HGNC:687) HGNC Entrez Ensembl OMIM UCSC GeneReviews LOVD LSDB ClinVar
- HGNC Name
- DIRAS family GTPase 3
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- ARHI
- Alias symbols
- NOEY2
- %HI
- 90.89(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.34(Read more about gnomAD pLI score)
- LOEUF
- 1.84(Read more about gnomAD LOEUF score)
- Cytoband
- 1p31.3
- Genomic Coordinates
-
GRCh37/hg19: chr1:68511569-68517314 NCBI Ensembl UCSC GRCh38/hg38: chr1:68045962-68050627 NCBI Ensembl UCSC - MANE Select Transcript
- NM_004675.5 ENST00000646789.1 (Read more about MANE Select)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-21343
ClinGen Curation ID:
CCID:006990
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
10/19/2011
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000001.10)
(NC_000001.11)