Variant (rsID / SNP)

rs200913791

rs200913791 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZMYND10, RASSF1. Location: chromosome 3, position 50,379,904. Clinical significance in the table: Pathogenic.

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Reference-table entries

ZMYND10Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:50379904
Cytoband: 3p21.31
HGVS: NM_015896.4(ZMYND10):c.797T>C (p.Leu266Pro)
Allele change: Missense_L266P

Associated conditions / phenotypes

Primary ciliary dyskinesia 22|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.