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Variant (rsID / SNP)

rs200750564

HOXD13

rs200750564 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HOXD13. Location: chromosome 2, position 176,959,246. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

HOXD13Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
2:176959246
Cytoband
2q31.1
HGVS
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter)
Allele change
Nonsense_R274X

Associated conditions / phenotypes

6 conditions|Inborn genetic diseases|Synpolydactyly type 1|Brachydactyly-syndactyly syndrome|Synpolydactyly

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.