Variant (rsID / SNP)

rs2309428

rs2309428 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TJP2. Location: chromosome 9, position 71,843,023. Clinical significance in the table: Benign.

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Reference-table entries

TJP2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:71843023
Cytoband: 9q21.11
HGVS: NM_004817.4(TJP2):c.1446C>A (p.Asp482Glu)
Allele change: Missense_D459E

Associated conditions / phenotypes

Hypercholanemia, familial 1|Cholestasis, progressive familial intrahepatic, 4

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.