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Variant (rsID / SNP)

rs143797113

CLDN14

rs143797113 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLDN14. Location: chromosome 21, position 37,833,506. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CLDN14Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
21:37833506
Cytoband
21q22.13
HGVS
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val)
Allele change
Missense_A163V

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 29

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.