DNAI2 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- DNAI2 (HGNC:18744) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- dynein axonemal intermediate chain 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- CILD9, DIC2, oda6
- %HI
- 64.18(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.97(Read more about gnomAD LOEUF score)
- Cytoband
- 17q25.1
- Genomic Coordinates
-
GRCh37/hg19: chr17:72270373-72311023 NCBI Ensembl UCSC GRCh38/hg38: chr17:74274234-74314884 NCBI Ensembl UCSC - MANE Select Transcript
- NM_023036.6 ENST00000311014.11 (Read more about MANE Select)
- Function
- Part of the dynein complex of respiratory cilia. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-32877
ClinGen Curation ID:
CCID:007015
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- primary ciliary dyskinesia 9 Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000017.10)
(NC_000017.11)