CCDC103 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- CCDC103 (HGNC:32700) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- coiled-coil domain containing 103
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- FLJ13094, FLJ34211, PR46b, CILD17
- %HI
- 67.25(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.36(Read more about gnomAD LOEUF score)
- Cytoband
- 17q21.31
- Genomic Coordinates
-
GRCh37/hg19: chr17:42977097-42982758 NCBI Ensembl UCSC GRCh38/hg38: chr17:44899729-44905390 NCBI Ensembl UCSC - MANE Select Transcript
- NM_213607.3 ENST00000417826.3 (Read more about MANE Select)
- Function
- Dynein-attachment factor required for cilia motility. {ECO:0000269|PubMed:22581229}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-18729
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
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 17 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000017.10)
(NC_000017.11)