Variant (rsID / SNP)

rs375088539

rs375088539 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC52A2, FBXL6. Location: chromosome 8, position 145,583,960. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC52A2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:145583960
Cytoband: 8q24.3
HGVS: NM_001363118.2(SLC52A2):c.808C>T (p.Gln270Ter)
Allele change: Nonsense_Q270X

Associated conditions / phenotypes

Brown-Vialetto-van Laere syndrome 2|Brown-Vialetto-van Laere syndrome 1

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.