Variant (rsID / SNP)

rs143948239

rs143948239 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RELN. Location: chromosome 7, position 103,194,115. Clinical significance in the table: Uncertain significance.

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Reference-table entries

RELNUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:103194115
Cytoband: 7q22.1
HGVS: NM_005045.4(RELN):c.5961G>T (p.Lys1987Asn)
Allele change: Missense_K1987N

Associated conditions / phenotypes

Norman-Roberts syndrome|Familial temporal lobe epilepsy 7

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.