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Variant (rsID / SNP)

rs181970528

JAG1

rs181970528 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JAG1. Location: chromosome 20, position 10,630,934. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

JAG1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
20:10630934
Cytoband
20p12.2
HGVS
NM_000214.3(JAG1):c.1195G>A (p.Val399Met)
Allele change
Missense_V399M

Associated conditions / phenotypes

Alagille syndrome due to a JAG1 point mutation

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.