Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs199784029

NRXN1

rs199784029 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NRXN1. Location: chromosome 2, position 51,255,090. 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
2:51255090
Cytoband
2p16.3
HGVS
NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser)
Allele change
Missense_P108S

Associated conditions / phenotypes

Chromosome 2P16.3 deletion syndrome|Pitt-Hopkins-like syndrome 2|History of neurodevelopmental disorder|Pitt-Hopkins-like syndrome 2|Intellectual disability

Public references

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