Variant (rsID / SNP)

rs10482810

rs10482810 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFB2. Location: chromosome 1, position 218,607,532. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TGFB2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:218607532
Cytoband: 1q41
HGVS: NM_003238.6(TGFB2):c.619G>C (p.Val207Leu)
Allele change: Missense_V235L

Associated conditions / phenotypes

Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome 4|Cardiovascular phenotype|Holt-Oram syndrome|Ehlers-Danlos 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.