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Variant (rsID / SNP)

rs188462546

ESRRB

rs188462546 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ESRRB. Location: chromosome 14, position 76,966,275. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ESRRBConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:76966275
Cytoband
14q24.3
HGVS
NM_001379180.1(ESRRB):c.*1474T>C
Allele change
Missense_F456L

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 35

Public references

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