Variant (rsID / SNP)

rs10034957

rs10034957 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEK1. Location: chromosome 4, position 170,498,175. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NEK1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 4:170498175
Cytoband: 4q33
HGVS: NM_001199397.3(NEK1):c.924T>G (p.Ile308Met)
Allele change: Missense_I308M

Associated conditions / phenotypes

Short-rib thoracic dysplasia 6 with or without polydactyly

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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