Variant (rsID / SNP)

rs63749972

rs63749972 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCNQ. Clinical significance in the table: Pathogenic.

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Reference-table entries

CCNQPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_152274.5(CCNQ):c.658-1G>A
Allele change: Silent

Associated conditions / phenotypes

Syndactyly-telecanthus-anogenital and renal malformations syndrome

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.