Variant (rsID / SNP)

rs28936397

rs28936397 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GDF5. Location: chromosome 20, position 34,025,192. Clinical significance in the table: Pathogenic.

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Reference-table entries

GDF5Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 20:34025192
Cytoband: 20q11.22
HGVS: NM_000557.5(GDF5):c.517A>G (p.Met173Val)
Allele change: Missense_M173V

Associated conditions / phenotypes

Brachydactyly type C

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.