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DLG3 |
Gene Facts External Data Attribution
- HGNC Symbol
- DLG3 (HGNC:2902) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- discs large MAGUK scaffold protein 3
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82
- %HI
- 14.46(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.09(Read more about gnomAD LOEUF score)
- Cytoband
- Xq13.1
- Genomic Coordinates
-
GRCh37/hg19: chrX:69664685-69725340 NCBI Ensembl UCSC GRCh38/hg38: chrX:70444835-70505490 NCBI Ensembl UCSC - MANE Select Transcript
- NM_021120.4 ENST00000374360.8 (Read more about MANE Select)
- Function
- Required for learning most likely through its role in synaptic plasticity following NMDA receptor signaling. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-4030
ClinGen Curation ID:
CCID:006996
Curation Status:
Reopened
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Reopened
Triplosensitivity:
Reopened
Last Evaluated:
Reopened
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000023.10)
(NC_000023.11)
