Variant (rsID / SNP)

rs4819522

rs4819522 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBX1. Location: chromosome 22, position 19,766,782. Clinical significance in the table: Benign.

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Reference-table entries

TBX1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 22:19766782
Cytoband: 22q11.21
HGVS: NM_005992.1(TBX1):c.1010-3654C>T
Allele change: Silent

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.