Variant (rsID / SNP)

rs121908254

rs121908254 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCBE1. Location: chromosome 18, position 57,134,004. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

CCBE1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 18:57134004
Cytoband: 18q21.32
HGVS: NM_133459.4(CCBE1):c.520T>C (p.Cys174Arg)
Allele change: Missense_C174R

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.