Variant (rsID / SNP)

rs200859252

rs200859252 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH1. Location: chromosome 3, position 52,400,807. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

DNAH1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:52400807
Cytoband: 3p21.1
HGVS: NM_015512.5(DNAH1):c.5669G>T (p.Gly1890Val)
Allele change: Missense_G1890V

Associated conditions / phenotypes

Spermatogenic failure 18|Ciliary dyskinesia, primary, 37

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.