Variant (rsID / SNP)

rs121918351

rs121918351 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JAG1. Location: chromosome 20, position 10,639,259. Clinical significance in the table: Pathogenic.

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Reference-table entries

JAG1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 20:10639259
Cytoband: 20p12.2
HGVS: NM_000214.3(JAG1):c.551G>A (p.Arg184His)
Allele change: Missense_R184H

Associated conditions / phenotypes

Alagille syndrome due to a JAG1 point mutation|Tetralogy of Fallot|Deafness, congenital heart defects, and posterior embryotoxon|Alagille syndrome due to a JAG1 point mutation

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.