Variant (rsID / SNP)

rs78763837

rs78763837 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HYDIN. Location: chromosome 16, position 71,015,329. 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: 16:71015329
Cytoband: 16q22.2
HGVS: NM_001270974.2(HYDIN):c.4475C>A (p.Pro1492His)
Allele change: Missense_P1492H

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.