Variant (rsID / SNP)

rs104895553

rs104895553 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NLRP7. Location: chromosome 19, position 55,452,313. Clinical significance in the table: Pathogenic.

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Reference-table entries

NLRP7Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Duplication
Chromosome / position: 19:55452313
Cytoband: 19q13.42
HGVS: NM_001127255.2(NLRP7):c.336dup (p.Glu113Glyfs)

Associated conditions / phenotypes

Hydatidiform mole, recurrent, 1

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.