Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs55640811

NRXN1

rs55640811 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NRXN1. Location: chromosome 2, position 51,255,307. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

NRXN1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:51255307
Cytoband
2p16.3
HGVS
NM_001330078.2(NRXN1):c.105C>A (p.Gly35=)
Allele change
Synonymous_G35G

Associated conditions / phenotypes

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

Public references

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