Variant (rsID / SNP)

rs1208216

rs1208216 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOBOX. Location: chromosome 7, position 144,094,613. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NOBOXBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:144094613
Cytoband: 7q35
HGVS: NM_001080413.3(NOBOX):c.1796C>A (p.Pro599His)
Allele change: Missense_P599H

Associated conditions / phenotypes

Premature ovarian failure 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.