Variant (rsID / SNP)

rs121908403

rs121908403 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPINT2. Location: chromosome 19, position 38,780,855. Clinical significance in the table: Pathogenic.

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Reference-table entries

SPINT2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:38780855
Cytoband: 19q13.2
HGVS: NM_021102.4(SPINT2):c.488A>G (p.Tyr163Cys)
Allele change: Missense_Y163C

Associated conditions / phenotypes

Diarrhea 3, secretory sodium, congenital, syndromic

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.