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Variant (rsID / SNP)

rs138307707

SLC17A8

rs138307707 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC17A8. Location: chromosome 12, position 100,797,882. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLC17A8Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:100797882
Cytoband
12q23.1
HGVS
NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser)
Allele change
Missense_A324S

Associated conditions / phenotypes

Autosomal dominant nonsyndromic hearing loss 25

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.