Variant (rsID / SNP)

rs200248561

rs200248561 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NRXN1. Location: chromosome 2, position 51,254,911. 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: 2:51254911
Cytoband: 2p16.3
HGVS: NM_001330078.2(NRXN1):c.501C>G (p.Leu167=)
Allele change: Synonymous_L167L

Associated conditions / phenotypes

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

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.