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CCDC50 |
Gene Facts External Data Attribution
- HGNC Symbol
- CCDC50 (HGNC:18111) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- coiled-coil domain containing 50
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- C3orf6, DFNA44
- Alias symbols
- Ymer
- %HI
- 46.29(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.93(Read more about gnomAD LOEUF score)
- Cytoband
- 3q28
- Genomic Coordinates
-
GRCh37/hg19: chr3:191047183-191116448 NCBI Ensembl UCSC GRCh38/hg38: chr3:191329394-191398659 NCBI Ensembl UCSC - MANE Select Transcript
- NM_178335.3 ENST00000392455.9 (Read more about MANE Select)
- Function
- Involved in EGFR signaling. {ECO:0000269|PubMed:15314609}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-26854
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000003.11)
(NC_000003.12)
