Variant (rsID / SNP)

rs61753253

rs61753253 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TYR. Location: chromosome 11, position 88,911,446. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TYRPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:88911446
Cytoband: 11q14.3
HGVS: NM_000372.5(TYR):c.325G>A (p.Gly109Arg)
Allele change: Missense_G109R

Associated conditions / phenotypes

6 conditions

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.