Variant (rsID / SNP)

rs2292305

rs2292305 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to THBS1. Location: chromosome 15, position 39,880,822. Clinical significance in the table: Benign.

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Reference-table entries

THBS1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:39880822
Cytoband: 15q14
HGVS: NM_003246.4(THBS1):c.1567A>G (p.Thr523Ala)
Allele change: Missense_T523A

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.