Variant (rsID / SNP)

rs187043152

rs187043152 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ZFPM2. Location: chromosome 8, position 106,813,942. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ZFPM2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 8:106813942
Cytoband: 8q23.1
HGVS: NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile)
Allele change: Missense_M491I

Associated conditions / phenotypes

Tetralogy of Fallot|46,XY sex reversal 9|46,XY sex reversal 3

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.