Variant (rsID / SNP)
rs527804875
rs527804875 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIF7. Location: chromosome 15, position 90,191,500. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
KIF7Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:90191500
- Cytoband
- 15q26.1
- HGVS
- NM_198525.3(KIF7):c.1429G>A (p.Ala477Thr)
- Allele change
- Missense_A477T
Associated conditions / phenotypes
Acrocallosal syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.