Variant (rsID / SNP)

rs759315662

rs759315662 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NBAS. Location: chromosome 2, position 15,674,726. Clinical significance in the table: Pathogenic.

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Reference-table entries

NBASPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Duplication
Chromosome / position: 2:15674726
Cytoband: 2p24.3
HGVS: NM_015909.4(NBAS):c.686dup (p.Ser230fs)

Associated conditions / phenotypes

Infantile liver failure 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.