Variant (rsID / SNP)

rs138320978

rs138320978 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RSPH1. Location: chromosome 21, position 43,913,159. Clinical significance in the table: Pathogenic.

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Reference-table entries

RSPH1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 21:43913159
Cytoband: 21q22.3
HGVS: NM_080860.4(RSPH1):c.85G>T (p.Glu29Ter)
Allele change: Nonsense_E29X

Associated conditions / phenotypes

Primary ciliary dyskinesia 24|Kartagener syndrome|Primary ciliary dyskinesia|See cases

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.