Variant (rsID / SNP)

rs121918712

rs121918712 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFBR1. Location: chromosome 9, position 101,900,165. Clinical significance in the table: Pathogenic.

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Reference-table entries

TGFBR1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:101900165
Cytoband: 9q22.33
HGVS: NM_004612.4(TGFBR1):c.599C>T (p.Thr200Ile)
Allele change: Missense_T123I

Associated conditions / phenotypes

Loeys-Dietz syndrome 1

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.