Variant (rsID / SNP)
rs115734214
rs115734214 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RELN. Location: chromosome 7, position 103,292,112. Clinical significance in the table: Benign.
Reference-table entries
RELNBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:103292112
- Cytoband
- 7q22.1
- HGVS
- NM_005045.4(RELN):c.1888A>C (p.Ser630Arg)
- Allele change
- Missense_S630R
Associated conditions / phenotypes
Norman-Roberts syndrome|Norman-Roberts syndrome|Familial temporal lobe epilepsy 7
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.