Variant (rsID / SNP)

rs1800472

rs1800472 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFB1. Location: chromosome 19, position 41,847,860. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TGFB1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:41847860
Cytoband: 19q13.2
HGVS: NM_000660.7(TGFB1):c.788C>T (p.Thr263Ile)
Allele change: Missense_T263I

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.