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Variant (rsID / SNP)

rs79273904

ESRRB

rs79273904 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ESRRB. Location: chromosome 14, position 76,949,017. 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
14:76949017
Cytoband
14q24.3
HGVS
NM_001379180.1(ESRRB):c.765G>A (p.Glu255=)
Allele change
Synonymous_E234E

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.