Variant (rsID / SNP)

rs113289249

rs113289249 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZFPM2. Location: chromosome 8, position 106,814,811. Clinical significance in the table: Benign.

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Reference-table entries

ZFPM2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:106814811
Cytoband: 8q23.1
HGVS: NM_012082.4(ZFPM2):c.2501A>G (p.Lys834Arg)
Allele change: Missense_K781R

Associated conditions / phenotypes

46,XY sex reversal 9

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.