Variant (rsID / SNP)

rs73110310

rs73110310 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFB2. Location: chromosome 1, position 218,519,330. Clinical significance in the table: Benign.

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Reference-table entries

TGFB2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:218519330
Cytoband: 1q41
HGVS: NM_003238.6(TGFB2):c.-714A>C
Allele change: Silent

Associated conditions / phenotypes

Loeys-Dietz syndrome 4

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.