Variant (rsID / SNP)

rs219780

rs219780 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLDN14. Location: chromosome 21, position 37,833,307. Clinical significance in the table: Benign.

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Reference-table entries

CLDN14Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 21:37833307
Cytoband: 21q22.13
HGVS: NM_001146079.2(CLDN14):c.687G>A (p.Thr229=)
Allele change: Synonymous_T229T

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 29

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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