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Variant (rsID / SNP)

rs202063628

JAG1

rs202063628 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JAG1. Location: chromosome 20, position 10,625,526. 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
20:10625526
Cytoband
20p12.2
HGVS
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser)
Allele change
Missense_P777S

Associated conditions / phenotypes

Isolated Nonsyndromic Congenital Heart Disease|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.