Variant (rsID / SNP)

rs377714129

rs377714129 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAX8. Location: chromosome 2, position 113,994,167. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PAX8Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 2:113994167
Cytoband: 2q14.1
HGVS: NM_003466.4(PAX8):c.898+11C>T
Allele change: Silent

Associated conditions / phenotypes

Hypothyroidism, congenital, nongoitrous, 2

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.