Variant (rsID / SNP)

rs78468999

rs78468999 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCDC88C. Location: chromosome 14, position 91,780,282. 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: 14:91780282
Cytoband: 14q32.11
HGVS: NM_001080414.4(CCDC88C):c.1878G>C (p.Lys626Asn)
Allele change: Missense_K626N

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.