Variant (rsID / SNP)
rs10482721
rs10482721 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFB2. Location: chromosome 1, position 218,520,315. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
TGFB2Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:218520315
- Cytoband
- 1q41
- HGVS
- NM_003238.6(TGFB2):c.272G>A (p.Arg91His)
- Allele change
- Missense_R91H
Associated conditions / phenotypes
Hirschsprung disease, susceptibility to, 1|Cardiovascular phenotype|Loeys-Dietz syndrome 4|Holt-Oram syndrome|Familial thoracic aortic aneurysm and aortic dissection|Ehlers-Danlos syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.