Variant (rsID / SNP)

rs137854434

rs137854434 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TG. Location: chromosome 8, position 134,042,152. Clinical significance in the table: Pathogenic.

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Reference-table entries

TGPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:134042152
Cytoband: 8q24.22
HGVS: NM_003235.5(TG):c.7123G>A (p.Gly2375Arg)
Allele change: Missense_G2375R

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.