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Variant (rsID / SNP)

rs34758606

KNL1

rs34758606 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KNL1. Location: chromosome 15, position 40,916,272. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

KNL1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
15:40916272
Cytoband
15q15.1
HGVS
NM_144508.5(KNL1):c.3810G>A (p.Ala1270=)
Allele change
Synonymous_A1296A

Associated conditions / phenotypes

Microcephaly 4, primary, autosomal recessive

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.