Variant (rsID / SNP)

rs78540316

rs78540316 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NRXN1. Location: chromosome 2, position 50,847,195. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NRXN1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:50847195
Cytoband: 2p16.3
HGVS: NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser)
Allele change: Missense_P429S

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.