Variant (rsID / SNP)

rs730880223

rs730880223 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFBR1. Location: chromosome 9, position 101,911,519. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

TGFBR1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:101911519
Cytoband: 9q22.33
HGVS: NM_004612.4(TGFBR1):c.1444A>G (p.Arg482Gly)
Allele change: Missense_R405G

Associated conditions / phenotypes

Loeys-Dietz syndrome

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.