Variant (rsID / SNP)

rs148234606

rs148234606 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC52A2. Location: chromosome 8, position 145,584,264. 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: 8:145584264
Cytoband: 8q24.3
HGVS: NM_001363118.2(SLC52A2):c.1016T>C (p.Leu339Pro)
Allele change: Missense_L339P

Associated conditions / phenotypes

Brown-Vialetto-van Laere syndrome 2|Inborn genetic diseases

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.