Variant (rsID / SNP)

rs75137449

rs75137449 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NRXN1. Location: chromosome 2, position 50,723,071. 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: 2:50723071
Cytoband: 2p16.3
HGVS: NM_001330078.2(NRXN1):c.3042C>T (p.Thr1014=)
Allele change: Synonymous_T1014T

Associated conditions / phenotypes

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.