Variant (rsID / SNP)

rs387907278

rs387907278 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFB2. Location: chromosome 1, position 218,610,765. Clinical significance in the table: Pathogenic.

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Reference-table entries

TGFB2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:218610765
Cytoband: 1q41
HGVS: NM_003238.6(TGFB2):c.1013C>A (p.Pro338His)
Allele change: Missense_P366H

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.