Variant (rsID / SNP)

rs190271845

rs190271845 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIAA0586. Location: chromosome 14, position 58,955,530. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

KIAA0586Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:58955530
Cytoband: 14q23.1
HGVS: NM_001329943.3(KIAA0586):c.3719T>C (p.Leu1240Ser)
Allele change: Missense_L1196S

Associated conditions / phenotypes

Joubert syndrome 23|Short-rib thoracic dysplasia 14 with 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.