Variant (rsID / SNP)

rs144429323

rs144429323 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TJP2. Location: chromosome 9, position 71,853,627. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TJP2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:71853627
Cytoband: 9q21.11
HGVS: NM_004817.4(TJP2):c.2277A>C (p.Lys759Asn)
Allele change: Missense_K736N

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.