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Variant (rsID / SNP)

rs200361387

TGFBR2

rs200361387 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFBR2. Location: chromosome 3, position 30,713,613. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TGFBR2Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
3:30713613
Cytoband
3p24.1
HGVS
NM_003242.6(TGFBR2):c.938G>A (p.Arg313Gln)
Allele change
Missense_R313Q

Associated conditions / phenotypes

Familial thoracic aortic aneurysm and aortic dissection|Malignant tumor of esophagus|Colorectal cancer, hereditary nonpolyposis, type 6|Loeys-Dietz syndrome 2

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.