Variant (rsID / SNP)

rs142613783

rs142613783 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZMYND10, RASSF1. Location: chromosome 3, position 50,379,257. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ZMYND10Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:50379257
Cytoband: 3p21.31
HGVS: NM_015896.4(ZMYND10):c.1105C>T (p.Arg369Trp)
Allele change: Missense_R369W

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.