Variant (rsID / SNP)

rs55812846

rs55812846 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RIPK4. Location: chromosome 21, position 43,161,469. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

RIPK4Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 21:43161469
Cytoband: 21q22.3
HGVS: NM_020639.3(RIPK4):c.1884C>T (p.Ser628=)
Allele change: Synonymous_S628S

Associated conditions / phenotypes

Bartsocas-Papas 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.