Variant (rsID / SNP)

rs138153104

rs138153104 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCDC50. Location: chromosome 3, position 191,093,019. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CCDC50Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 3:191093019
Cytoband: 3q28
HGVS: NM_178335.3(CCDC50):c.617C>T (p.Ser206Phe)
Allele change: Silent

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.