Variant (rsID / SNP)

rs200330818

rs200330818 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GDF2. Location: chromosome 10, position 48,416,491. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GDF2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:48416491
Cytoband: 10q11.22
HGVS: NM_016204.4(GDF2):c.203G>T (p.Arg68Leu)
Allele change: Missense_R68H

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.