Variant (rsID / SNP)

rs2241820

rs2241820 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HOXC9. Location: chromosome 12, position 54,394,497. The table records no clinical significance for this variant.

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Reference-table entries

HOXC9Not classified

Variant type: synonymous_variant
Chromosome / position: 12:54394497
HGVS: NM_006897.3,c.525C>T,p.Ala175Ala
Allele change: Synonymous_A175A

Associated conditions / phenotypes

Heart Disease|Heart Septal Defect|Ventricular Septal Defect

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.