Variant (rsID / SNP)

rs386833446

rs386833446 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A3. Location: chromosome 7, position 107,423,522. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SLC26A3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:107423522
Cytoband: 7q22.3
HGVS: NM_000111.3(SLC26A3):c.1136G>C (p.Gly379Ala)
Allele change: Missense_G379A

Associated conditions / phenotypes

Congenital secretory diarrhea, chloride type

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.