Variant (rsID / SNP)

rs115143295

rs115143295 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ESPN. Location: chromosome 1, position 6,504,598. Clinical significance in the table: Likely benign.

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Reference-table entries

ESPNLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:6504598
Cytoband: 1p36.31
HGVS: NM_031475.3(ESPN):c.1048C>T (p.Pro350Ser)
Allele change: Missense_P350S

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 36

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.