Variant (rsID / SNP)

rs199422235

rs199422235 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KDM5C. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

KDM5CLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.22
HGVS: NM_004187.5(KDM5C):c.1162G>C (p.Ala388Pro)
Allele change: Silent

Associated conditions / phenotypes

Syndromic X-linked intellectual disability Claes-Jensen type|Inborn genetic diseases

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.