Variant (rsID / SNP)
rs143050366
rs143050366 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RELN. Location: chromosome 7, position 103,338,335. 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
- 7:103338335
- Cytoband
- 7q22.1
- HGVS
- NM_005045.4(RELN):c.1108G>C (p.Gly370Arg)
- Allele change
- Missense_G370R
Associated conditions / phenotypes
Norman-Roberts syndrome|Familial temporal lobe epilepsy 7|Epilepsy, familial temporal lobe, 1|Norman-Roberts syndrome|Familial temporal lobe epilepsy 7|Intellectual disability
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.