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Variant (rsID / SNP)

rs145457535

CCDC103

rs145457535 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCDC103. Location: chromosome 17, position 42,979,917. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CCDC103Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:42979917
Cytoband
17q21.31
HGVS
NM_213607.3(CCDC103):c.461A>C (p.His154Pro)
Allele change
Missense_H154P

Associated conditions / phenotypes

Primary ciliary dyskinesia 17|Primary ciliary dyskinesia|Infertility

Public references

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