Variant (rsID / SNP)

rs104895506

rs104895506 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NLRP7, NCR1. Location: chromosome 19, position 55,449,464. Clinical significance in the table: Pathogenic.

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Reference-table entries

NLRP7Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:55449464
Cytoband: 19q13.42
HGVS: NM_001127255.2(NLRP7):c.2077C>T (p.Arg693Trp)
Allele change: Missense_R693W

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.