Variant (rsID / SNP)

rs147984237

rs147984237 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NRXN1. Location: chromosome 2, position 50,733,745. 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: 2:50733745
Cytoband: 2p16.3
HGVS: NM_001330078.2(NRXN1):c.2385C>G (p.Pro795=)
Allele change: Synonymous_P795P

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.