Variant (rsID / SNP)

rs11992497

rs11992497 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TG. Location: chromosome 8, position 133,910,461. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TGBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:133910461
Cytoband: 8q24.22
HGVS: NM_003235.5(TG):c.3187C>A (p.Leu1063Met)
Allele change: Missense_L1063M

Associated conditions / phenotypes

Iodotyrosyl coupling defect

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.