Variant (rsID / SNP)

rs28928891

rs28928891 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HOXD13. Location: chromosome 2, position 176,959,390. Clinical significance in the table: Pathogenic.

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Reference-table entries

HOXD13Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:176959390
Cytoband: 2q31.1
HGVS: NM_000523.4(HOXD13):c.964A>C (p.Ile322Leu)
Allele change: Missense_I322L

Associated conditions / phenotypes

Brachydactyly type E1|Brachydactyly type D

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.