Variant (rsID / SNP)

rs119461976

rs119461976 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SECISBP2. Location: chromosome 9, position 91,963,010. Clinical significance in the table: Pathogenic.

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Reference-table entries

SECISBP2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:91963010
Cytoband: 9q22.2
HGVS: NM_024077.5(SECISBP2):c.1619G>A (p.Arg540Gln)
Allele change: Missense_R502Q

Associated conditions / phenotypes

Thyroid hormone metabolism, abnormal 1

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.