Variant (rsID / SNP)

rs200983311

rs200983311 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP120. Location: chromosome 5, position 122,748,147. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CEP120Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:122748147
Cytoband: 5q23.2
HGVS: NM_001375405.1(CEP120):c.409A>G (p.Lys137Glu)
Allele change: Missense_K111E

Associated conditions / phenotypes

Short-rib thoracic dysplasia 13 with or without polydactyly

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.