PCDH15 T1869Del - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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PCDH15 T1869Del

(PCDH15 1869delTins)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • - @ chr10:55251892: 6.2% (8/128) in GET-Evidence
  • Frequency shown in summary reports: 6.2% (8/128)



GS18502 - var-GS18502-1100-36-ASM
hom - @ chr10:55251893


GS18504 - var-GS18504-1100-36-ASM
het - @ chr10:55251893


GS18505 - var-GS18505-1100-36-ASM
het - @ chr10:55251893


GS19025 - var-GS19025-1100-36-ASM
hom - @ chr10:55251893


GS19704 - var-GS19704-1100-36-ASM
het - @ chr10:55251893


Other external references

  • GeneTests records for the PCDH15 gene
    Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive
    Usher Syndrome Type 1
    DFNB23 Nonsyndromic Hearing Loss and Deafness
    Usher Syndrome Type 1F

Other in silico analyses

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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