Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs147793030

JAG1

rs147793030 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JAG1. Location: chromosome 20, position 10,622,246. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

JAG1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
20:10622246
Cytoband
20p12.2
HGVS
NM_000214.3(JAG1):c.2778C>T (p.Phe926=)
Allele change
Synonymous_F926F

Associated conditions / phenotypes

Cardiovascular phenotype|Alagille syndrome due to a JAG1 point mutation|Isolated Nonsyndromic Congenital Heart Disease

Public references

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