Variant (rsID / SNP)

rs78231991

rs78231991 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MCM9. Location: chromosome 6, position 119,234,579. Clinical significance in the table: Likely benign.

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Reference-table entries

MCM9Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:119234579
Cytoband: 6q22.31
HGVS: NM_017696.3(MCM9):c.911A>G (p.Asn304Ser)
Allele change: Missense_N304S

Associated conditions / phenotypes

Premature ovarian insufficiency|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.