Variant (rsID / SNP)

rs2502726

rs2502726 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HYDIN. Location: chromosome 16, position 70,972,595. Clinical significance in the table: Benign.

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Reference-table entries

HYDINBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:70972595
Cytoband: 16q22.2
HGVS: NM_001270974.2(HYDIN):c.6917A>G (p.Glu2306Gly)
Allele change: Missense_E2306G

Associated conditions / phenotypes

Primary ciliary dyskinesia 5

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.