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Variant (rsID / SNP)

rs138241615

TJP2

rs138241615 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TJP2. Location: chromosome 9, position 71,831,325. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TJP2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:71831325
Cytoband
9q21.11
HGVS
NM_004817.4(TJP2):c.185C>T (p.Thr62Met)
Allele change
Missense_T39M

Associated conditions / phenotypes

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

Public references

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