Variant (rsID / SNP)

rs114280473

rs114280473 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP120. Location: chromosome 5, position 122,714,092. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CEP120Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:122714092
Cytoband: 5q23.2
HGVS: NM_001375405.1(CEP120):c.2134C>T (p.Leu712Phe)
Allele change: Missense_L686F

Associated conditions / phenotypes

Short-rib thoracic dysplasia 13 with or without polydactyly|Joubert syndrome 31

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.