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Variant (rsID / SNP)

rs199557987

NRXN1

rs199557987 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NRXN1. Location: chromosome 2, position 50,724,843. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NRXN1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:50724843
Cytoband
2p16.3
HGVS
NM_001330078.2(NRXN1):c.2507C>T (p.Ala836Val)
Allele change
Missense_A836V

Associated conditions / phenotypes

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.