Variant (rsID / SNP)

rs121908134

rs121908134 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ESPN. Location: chromosome 1, position 6,511,986. Clinical significance in the table: Pathogenic.

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Reference-table entries

ESPNPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:6511986
Cytoband: 1p36.31
HGVS: NM_031475.3(ESPN):c.2155A>C (p.Ser719Arg)
Allele change: Missense_S719R

Associated conditions / phenotypes

Deafness, without vestibular involvement, autosomal dominant

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.