Variant (rsID / SNP)

rs200648035

rs200648035 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to JAG1. Location: chromosome 20, position 10,626,044. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

JAG1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 20:10626044
Cytoband: 20p12.2
HGVS: NM_000214.3(JAG1):c.2073T>C (p.Cys691=)
Allele change: Synonymous_C691C

Associated conditions / phenotypes

Isolated Nonsyndromic Congenital Heart Disease|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.