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Variant (rsID / SNP)

rs863223403

HNRNPK

rs863223403 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HNRNPK. Location: chromosome 9, position 86,590,377. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

HNRNPKPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
9:86590377
Cytoband
9q21.32
HGVS
NM_031263.4(HNRNPK):c.257G>A (p.Arg86His)
Allele change
Missense_R86H

Associated conditions / phenotypes

Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation

Public references

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