Variant (rsID / SNP)

rs114502673

rs114502673 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCDC50. Location: chromosome 3, position 191,098,660. Clinical significance in the table: Benign.

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Reference-table entries

CCDC50Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:191098660
Cytoband: 3q28
HGVS: NM_178335.3(CCDC50):c.1181A>G (p.Lys394Arg)
Allele change: Missense_K218R

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.