Variant (rsID / SNP)

rs143477571

rs143477571 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ESRRB. Location: chromosome 14, position 76,905,712. Clinical significance in the table: Benign.

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Reference-table entries

ESRRBBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 14:76905712
Cytoband: 14q24.3
HGVS: NM_001379180.1(ESRRB):c.79A>G (p.Arg27Gly)
Allele change: Missense_R6G

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 35

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.