Variant (rsID / SNP)

rs145595957

rs145595957 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCDC40, GAA. Location: chromosome 17, position 78,073,494. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CCDC40Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:78073494
Cytoband: 17q25.3
HGVS: NM_017950.4(CCDC40):c.3349G>A (p.Glu1117Lys)
Allele change: Missense_E1117K

Associated conditions / phenotypes

Primary ciliary dyskinesia|Primary ciliary dyskinesia 15

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.