Variant (rsID / SNP)

rs587777620

rs587777620 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCND2. Location: chromosome 12, position 4,409,144. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CCND2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:4409144
Cytoband: 12p13.32
HGVS: NM_001759.4(CCND2):c.839C>A (p.Thr280Asn)
Allele change: Missense_T280N

Associated conditions / phenotypes

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3|Seizure

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.