RSPH1 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- RSPH1 (HGNC:12371) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- radial spoke head component 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- TSGA2
- Alias symbols
- FLJ32753, RSP44, RSPH10A, CILD24
- %HI
- 83.46(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.81(Read more about gnomAD LOEUF score)
- Cytoband
- 21q22.3
- Genomic Coordinates
-
GRCh37/hg19: chr21:43892596-43916334 NCBI Ensembl UCSC GRCh38/hg38: chr21:42472486-42496224 NCBI Ensembl UCSC - MANE Select Transcript
- NM_080860.4 ENST00000291536.8 (Read more about MANE Select)
- Function
- Functions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia. {ECO:0000269|PubMed:23993197}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-13547
ClinGen Curation ID:
CCID:007790
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 24 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000021.8)
(NC_000021.9)