GREB1L GREB1 like retinoic acid receptor coactivator

Gene ID: 80000, updated on 7-Apr-2024
Gene type: protein coding
Also known as: RHDA3; DFNA80; C18orf6; KIAA1772

Summary

Acts upstream of or within kidney development. Predicted to be integral component of membrane. Implicated in autosomal dominant nonsyndromic deafness and renal agenesis. [provided by Alliance of Genome Resources, Apr 2022]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Hearing loss, autosomal dominant 80 MedGen: C5543289OMIM: 619274GeneReviews: Not available	See labs
Renal hypodysplasia/aplasia 3 MedGen: C4540497OMIM: 617805GeneReviews: Not available	See labs

Genomic context

Location:: 18q11.1-q11.2

Sequence:: Chromosome: 18; NC_000018.10 (21242232..21526112)

Total number of exons:: 35

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for GREB1L variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
Variation Viewer
Related Variants

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