Variant (rsID / SNP)

rs200834568

rs200834568 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZFPM2. Location: chromosome 8, position 106,810,991. Clinical significance in the table: Pathogenic.

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Reference-table entries

ZFPM2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:106810991
Cytoband: 8q23.1
HGVS: NM_012082.4(ZFPM2):c.779G>A (p.Arg260Gln)
Allele change: Missense_R207Q

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.