Variant (rsID / SNP)

rs143790434

rs143790434 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCDC22. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CCDC22Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xp11.23
HGVS: NM_014008.5(CCDC22):c.1150C>T (p.Arg384Cys)
Allele change: Missense_R384C

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.