Variant (rsID / SNP)

rs149911553

rs149911553 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TJP2. Location: chromosome 9, position 71,851,040. 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: 9:71851040
Cytoband: 9q21.11
HGVS: NM_004817.4(TJP2):c.1877C>G (p.Thr626Ser)
Allele change: Missense_T603S

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.