Variant (rsID / SNP)

rs34377097

rs34377097 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBXA2R. Location: chromosome 19, position 3,600,454. Clinical significance in the table: Benign.

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Reference-table entries

TBXA2RBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:3600454
Cytoband: 19p13.3
HGVS: NM_001060.6(TBXA2R):c.179G>T (p.Arg60Leu)
Allele change: Missense_R60L

Associated conditions / phenotypes

Bleeding diathesis due to thromboxane synthesis deficiency

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.