Variant (rsID / SNP)

rs121918339

rs121918339 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC17A8. Location: chromosome 12, position 100,790,151. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

SLC17A8Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:100790151
Cytoband: 12q23.1
HGVS: NM_139319.3(SLC17A8):c.632C>T (p.Ala211Val)
Allele change: Missense_A211V

Associated conditions / phenotypes

Autosomal dominant nonsyndromic hearing loss 25

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.