GALR1
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
GALR1 (HGNC:4132) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
galanin receptor 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
GALNR1, GALNR
Alias symbols
No aliases found
%HI
59.63(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.04(Read more about gnomAD pLI score)
LOEUF
0.98(Read more about gnomAD LOEUF score)
Cytoband
18q23
Genomic Coordinates
GRCh37/hg19: chr18:74961804-74989856 NCBI Ensembl UCSC
GRCh38/hg38: chr18:77249848-77277900 NCBI Ensembl UCSC
MANE Select Transcript
NM_001480.4 ENST00000299727.5 (Read more about MANE Select)
Function
Receptor for the hormone galanin. The activity of this receptor is mediated by G proteins that inhibit adenylate cyclase activity. {ECO:0000269|PubMed:25691535, ECO:0000269|PubMed:7524088}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-1667
ClinGen Curation ID:
CCID:007183
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
07/06/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
No conclusive evidence for haploinsufficiency for this gene. Describes a familial deletion, measuring approximately 8 Mb from 71,236,891 to 76,093,303 (hg18, including GALR1) , which was transmitted from a mother to two daughters. The deletion was associated with remarkable phenotypic variability (PMID: 22302430). Describes a putative critical interval of approximately 2.3 Mb, including the genes ZNF407, ZADH2, SDCCAG33, ZNF516, FLJ44881, ZNF236, MBP-Golli, and GALR1, associated with the congenital aural atresia phenotype observed in 18q deletion syndrome patients (PMID: 16639285)

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No literature identified

Genomic View

Select assembly: (NC_000018.9) (NC_000018.10)