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Variant (rsID / SNP)

rs142539336

CCDC88C

rs142539336 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCDC88C. Location: chromosome 14, position 91,763,720. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CCDC88CConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:91763720
Cytoband
14q32.11
HGVS
NM_001080414.4(CCDC88C):c.3895C>T (p.Arg1299Cys)
Allele change
Missense_R1299C

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.