Variant (rsID / SNP)

rs61744548

rs61744548 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ESRRB. Location: chromosome 14, position 76,905,837. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ESRRBBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:76905837
Cytoband: 14q24.3
HGVS: NM_001379180.1(ESRRB):c.204G>C (p.Leu68=)
Allele change: Synonymous_L47L

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.