PDZ Domain-Containing 7

Alternative Names

  • PDZD7

Associated Diseases

Usher Syndrome, Type IIC
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OMIM Number

612971

NCBI Gene ID

79955

Uniprot ID

Q9H5P4

Length

23,451 bases

No. of Exons

19

No. of isoforms

3

Protein Name

PDZ domain-containing protein 7

Molecular Mass

111752 Da

Amino Acid Count

1033

Genomic Location

chr10:101,007,679-101,031,129

Gene Map Locus
10q24.31

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001195263.2:c.918dupUnited Arab EmiratesNC_000010.11:g.101020629dupPathogenicPathogenicUsher Syndrome, Type IICNG_028030.1:g.15530dup; NM_001195263.2:c.918dup; NP_001182192.1:p.Leu307AlafsTer1721340741651455175
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