Variant (rsID / SNP)

rs144396411

rs144396411 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TJP2. Location: chromosome 9, position 71,833,267. 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: 9:71833267
Cytoband: 9q21.11
HGVS: NM_004817.4(TJP2):c.334G>A (p.Ala112Thr)
Allele change: Missense_A89T

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.