Variant (rsID / SNP)
rs201465097
rs201465097 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SEMA3E. Location: chromosome 7, position 83,098,573. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SEMA3EConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:83098573
- Cytoband
- 7q21.11
- HGVS
- NM_012431.3(SEMA3E):c.322A>C (p.Lys108Gln)
- Allele change
- Missense_K108Q
Associated conditions / phenotypes
CHARGE association
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.