Variant (rsID / SNP)

rs121908250

rs121908250 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCBE1. Location: chromosome 18, position 57,147,460. Clinical significance in the table: Pathogenic.

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Reference-table entries

CCBE1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 18:57147460
Cytoband: 18q21.32
HGVS: NM_133459.4(CCBE1):c.223T>A (p.Cys75Ser)
Allele change: Missense_C75S

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.