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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)