Variant (rsID / SNP)

rs140256463

rs140256463 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NBAS. Location: chromosome 2, position 15,651,379. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

NBASLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:15651379
Cytoband: 2p24.3
HGVS: NM_015909.4(NBAS):c.842C>T (p.Pro281Leu)
Allele change: Silent

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.