Variant (rsID / SNP)
rs76098847
rs76098847 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KNL1. Location: chromosome 15, position 40,917,393. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
KNL1Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:40917393
- Cytoband
- 15q15.1
- HGVS
- NM_144508.5(KNL1):c.4931A>G (p.Lys1644Arg)
- Allele change
- Missense_K1670R
Associated conditions / phenotypes
Primary Microcephaly, Recessive
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.