Variant (rsID / SNP)

rs201947677

rs201947677 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOBOX. Location: chromosome 7, position 144,096,940. Clinical significance in the table: Likely benign.

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Reference-table entries

NOBOXLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:144096940
Cytoband: 7q35
HGVS: NM_001080413.3(NOBOX):c.1064G>A (p.Arg355His)
Allele change: Missense_R355H

Associated conditions / phenotypes

Premature ovarian failure 5|Genetic non-acquired premature ovarian failure

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.