Variant (rsID / SNP)
rs114344654
rs114344654 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RELN. Location: chromosome 7, position 103,179,591. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
RELNConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:103179591
- Cytoband
- 7q22.1
- HGVS
- NM_005045.4(RELN):c.7114G>A (p.Val2372Met)
- Allele change
- Missense_V2372M
Associated conditions / phenotypes
Norman-Roberts syndrome|Familial temporal lobe epilepsy 7|Norman-Roberts syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.