Variant (rsID / SNP)
rs41286594
rs41286594 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNNM4. Location: chromosome 2, position 97,465,384. Clinical significance in the table: Benign.
Reference-table entries
CNNM4Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:97465384
- Cytoband
- 2q11.2
- HGVS
- NM_020184.4(CNNM4):c.1947C>T (p.Ser649=)
- Allele change
- Synonymous_S649S
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.