Variant (rsID / SNP)
rs45571645
rs45571645 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HOXA1, HOXA2. Location: chromosome 7, position 27,135,096. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
HOXA1Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:27135096
- Cytoband
- 7p15.2
- HGVS
- NM_005522.5(HOXA1):c.436C>A (p.His146Asn)
- Allele change
- Missense_H146N
Associated conditions / phenotypes
Human HOXA1 syndromes|Bilateral microtia-deafness-cleft palate syndrome|Bosley-Salih-Alorainy syndrome|History of neurodevelopmental disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.