Variant (rsID / SNP)

rs5763

rs5763 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBXAS1. Location: chromosome 7, position 139,715,645. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TBXAS1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:139715645
Cytoband: 7q34
HGVS: NM_001061.7(TBXAS1):c.1349C>A (p.Thr450Asn)
Allele change: Missense_T383N

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.