Variant (rsID / SNP)

rs201785359

rs201785359 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JAG1. Location: chromosome 20, position 10,628,673. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

JAG1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 20:10628673
Cytoband: 20p12.2
HGVS: NM_000214.3(JAG1):c.1655C>T (p.Pro552Leu)
Allele change: Missense_P552L

Associated conditions / phenotypes

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

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.