Variant (rsID / SNP)

rs143708308

rs143708308 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A4. Location: chromosome 7, position 107,350,548. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SLC26A4Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:107350548
Cytoband: 7q22.3
HGVS: NM_000441.2(SLC26A4):c.2139T>G (p.Ile713Met)
Allele change: Missense_I713M

Associated conditions / phenotypes

Pendred syndrome

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.