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Variant (rsID / SNP)

rs34540355

NEK1

rs34540355 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEK1. Location: chromosome 4, position 170,477,125. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

NEK1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
4:170477125
Cytoband
4q33
HGVS
NM_001199397.3(NEK1):c.1388C>T (p.Ala463Val)
Allele change
Missense_A463V

Associated conditions / phenotypes

Short-rib thoracic dysplasia 6 with or without polydactyly|Connective tissue disorder

Public references

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