Variant (rsID / SNP)

rs104894018

rs104894018 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HOXA1. Location: chromosome 7, position 27,135,456. Clinical significance in the table: Pathogenic.

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Reference-table entries

HOXA1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:27135456
Cytoband: 7p15.2
HGVS: NM_005522.5(HOXA1):c.76C>T (p.Arg26Ter)
Allele change: Nonsense_R26X

Associated conditions / phenotypes

Human HOXA1 syndromes

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.