Variant (rsID / SNP)

rs115211871

rs115211871 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NRXN1. Location: chromosome 2, position 50,733,709. 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: 2:50733709
Cytoband: 2p16.3
HGVS: NM_001330078.2(NRXN1):c.2421C>T (p.Asn807_Glu808=)
Allele change: Synonymous_N807N

Associated conditions / phenotypes

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

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.