Variant (rsID / SNP)

rs199961859

rs199961859 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCDC103. Location: chromosome 17, position 42,978,941. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CCDC103Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:42978941
Cytoband: 17q21.31
HGVS: NM_213607.3(CCDC103):c.197G>A (p.Gly66Glu)
Allele change: Missense_G66E

Associated conditions / phenotypes

Primary ciliary dyskinesia

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.