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Variant (rsID / SNP)

rs79161241

RELN

rs79161241 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RELN. Location: chromosome 7, position 103,191,675. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RELNConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
7:103191675
Cytoband
7q22.1
HGVS
NM_005045.4(RELN):c.6141C>T (p.Phe2047=)
Allele change
Synonymous_F2047F

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.