Variant (rsID / SNP)

rs56086732

rs56086732 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NRXN1. Location: chromosome 2, position 50,765,412. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

NRXN1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:50765412
Cytoband: 2p16.3
HGVS: NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile)
Allele change: Missense_L708I

Associated conditions / phenotypes

History of neurodevelopmental disorder|Pitt-Hopkins-like syndrome 2

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.