Variant (rsID / SNP)

rs386833480

rs386833480 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC26A3. Location: chromosome 7, position 107,431,677. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

SLC26A3Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:107431677
Cytoband: 7q22.3
HGVS: NM_000111.3(SLC26A3):c.386C>T (p.Pro129Leu)
Allele change: Missense_P129L

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.