Variant (rsID / SNP)

rs863223844

rs863223844 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TGFBR2. Location: chromosome 3, position 30,713,820. 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: 3:30713820
Cytoband: 3p24.1
HGVS: NM_003242.6(TGFBR2):c.1145G>A (p.Ser382Asn)
Allele change: Missense_S382N

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.