Variant (rsID / SNP)

rs368924997

rs368924997 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC52A2. Location: chromosome 8, position 145,584,595. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLC52A2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 8:145584595
Cytoband: 8q24.3
HGVS: NM_001363118.2(SLC52A2):c.1258G>A (p.Ala420Thr)
Allele change: Missense_A420T

Associated conditions / phenotypes

Brown-Vialetto-van Laere 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.