Variant (rsID / SNP)

rs190914906

rs190914906 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TG. Location: chromosome 8, position 133,984,047. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TGUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 8:133984047
Cytoband: 8q24.22
HGVS: NM_003235.5(TG):c.5984A>G (p.Glu1995Gly)
Allele change: Missense_E1995G

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.