Variant (rsID / SNP)
rs79424354
rs79424354 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNNM4. Location: chromosome 2, position 97,427,335. Clinical significance in the table: Pathogenic.
Reference-table entries
CNNM4Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:97427335
- Cytoband
- 2q11.2
- HGVS
- NM_020184.4(CNNM4):c.599C>A (p.Ser200Tyr)
- Allele change
- Missense_S200Y
Associated conditions / phenotypes
Jalili syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.