Variant (rsID / SNP)

rs121908135

rs121908135 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ESPN. Location: chromosome 1, position 6,512,061. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ESPNUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:6512061
Cytoband: 1p36.31
HGVS: NM_031475.3(ESPN):c.2230G>A (p.Asp744Asn)
Allele change: Missense_D744N

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.