Variant (rsID / SNP)
rs74315420
rs74315420 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RSPO4. Location: chromosome 20, position 948,667. Clinical significance in the table: Pathogenic.
Reference-table entries
RSPO4Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:948667
- Cytoband
- 20p13
- HGVS
- NM_001029871.4(RSPO4):c.194A>G (p.Gln65Arg)
- Allele change
- Missense_Q65R
Associated conditions / phenotypes
Anonychia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.