PDZD7 PDZ domain containing 7

Gene ID: 79955, updated on 17-Jun-2024
Gene type: protein coding
Also known as: PDZK7; DFNB57

Summary

This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Hearing loss, autosomal recessive 57 MedGen: C4693893OMIM: 618003GeneReviews: Not available	See labs
Usher syndrome type 2A MedGen: C1848634OMIM: 276901GeneReviews: Usher Syndrome Type II	See labs
Usher syndrome type 2C MedGen: C2931213OMIM: 605472GeneReviews: Usher Syndrome Type II	See labs

Genomic context

Location:: 10q24.31

Sequence:: Chromosome: 10; NC_000010.11 (101007679..101031129, complement)

Total number of exons:: 19

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 PDZD7 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
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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