Variant (rsID / SNP)

rs192224843

rs192224843 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCBE1. Location: chromosome 18, position 57,103,303. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CCBE1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 18:57103303
Cytoband: 18q21.32
HGVS: NM_133459.4(CCBE1):c.1058A>G (p.Gln353Arg)
Allele change: Missense_Q353R

Associated conditions / phenotypes

Hennekam lymphangiectasia-lymphedema syndrome 1

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.