Variant (rsID / SNP)
rs56146903
rs56146903 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RELN. Location: chromosome 7, position 103,301,928. Clinical significance in the table: Uncertain significance.
Reference-table entries
RELNUncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:103301928
- Cytoband
- 7q22.1
- HGVS
- NM_005045.4(RELN):c.1336G>C (p.Glu446Gln)
- Allele change
- Missense_E446Q
Associated conditions / phenotypes
Familial temporal lobe epilepsy 7|Norman-Roberts syndrome|Familial temporal lobe epilepsy 7|Norman-Roberts syndrome|Epilepsy, familial temporal lobe, 1|Norman-Roberts syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.