Variant (rsID / SNP)

rs35129734

rs35129734 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GDF2. Location: chromosome 10, position 48,413,871. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GDF2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 10:48413871
Cytoband: 10q11.22
HGVS: NM_016204.4(GDF2):c.997C>T (p.Arg333Trp)
Allele change: Missense_R333W

Associated conditions / phenotypes

Telangiectasia, hereditary hemorrhagic, type 5

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.