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Variant (rsID / SNP)

rs116040763

RIPK1

rs116040763 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RIPK1. Location: chromosome 6, position 3,113,491. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RIPK1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:3113491
Cytoband
6p25.2
HGVS
NM_001354930.2(RIPK1):c.1934C>T (p.Thr645Met)
Allele change
Missense_T599M

Associated conditions / phenotypes

Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome|Inborn errors of immunity|Immunodeficiency 57

Public references

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