Variant (rsID / SNP)

rs112350099

rs112350099 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RSPH4A. Location: chromosome 6, position 116,937,930. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

RSPH4ABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:116937930
Cytoband: 6q22.1
HGVS: NM_001010892.3(RSPH4A):c.144G>A (p.Gly48=)
Allele change: Synonymous_G48G

Associated conditions / phenotypes

Primary ciliary dyskinesia|Primary ciliary dyskinesia 11

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.