Variant (rsID / SNP)
rs3746894
rs3746894 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RIPK4. Location: chromosome 21, position 43,162,150. Clinical significance in the table: Benign.
Reference-table entries
RIPK4Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 21:43162150
- Cytoband
- 21q22.3
- HGVS
- NM_020639.3(RIPK4):c.1203C>T (p.Gly401=)
- Allele change
- Synonymous_G401G
Associated conditions / phenotypes
Bartsocas-Papas syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
